Macrocephaly is a common finding in infants and is often idiopathic or familial. Tkachuk, O.O. This is often secondary to mass lesions and is also commonly seen in the acute phase of intraventricular hemorrhage in premature infants. When a young child presents with a hypercellular infiltrative mass in the posterior fossa containing blood products and calcifications, atypical teratoid rhabdoid tumor should be considered, although definitive diagnosis can be achieved only with immunohistochemical analysis . This slightly differs from the term megalencephalywhich means an increase in the size of the brain parenchyma. B, 3-year-old boy with choroid plexus cyst. Since the macrocephaly is likely to be the initial manifestation, the syndrome should be considered in the differential diagnosis of infants with unexplained macrocephaly. … Day RE, Schutt WH. A, 2-year-old boy with macrocephaly who has not reached developmental milestones owing to Alexander disease. Supratentorial hydrocephalus, when not present at birth, usually develops after closure of the myelomeningocele, which generally occurs either prenatally or within 48 hours of birth. The bones of the cranium are divided into the skull base and the calvarial vault. They are T2-hyperintense masses with variable nodular enhancement, high ADC values reflecting low cellularity, and often (but not always) an associated cystic component. + + All material on this website is protected by copyright, Copyright © 1994-2021 by WebMD LLC. The exception is the metopic suture, which typically closes in the first year of life . Toxoplasmosis is the most common cause of postinfectious hydrocephalus in infants, particularly in developing countries. Sagittal T1-weighted MR image shows cystic dilatation of fourth ventricle in enlarged posterior fossa with vermian hypoplasia (arrow). The article deals with the problem of differential diagnosis of macrocephaly in pediatric neurology practice. Children's Mercy Hospital and Clinics. Macrocephaly resulting from an abnormal increase in size of the brain parenchyma is defined as megalencephaly . Pediatr Radiol. Large arachnoid cysts may cause scalloping of the calvaria and supratentorial hydrocephalus if compressing the fourth ventricle. At imaging, children present with symmetric, extensive areas of T1-hypointensity and T2-hyperintensity involving subcortical white matter fibers early in the course of the disease (Fig. In general, the causes of macrocephaly are: Familial e.g. Amy Kao, MD Attending Neurologist, Children's National Medical Center The Child With Macrocephaly: Differential Diagnosis and Neuroimaging Findings. Imaging of children is particularly challenging because of their occasional inability to cooperate and the need to establish an accurate diagnosis while limiting radiation exposure to a reasonable minimum . Benign enlargement of subarachnoid spaces has been variably associated with a propensity to isolated subdural hemorrhage (SDH), although without definitive proof . The main advantage of MRI lies in the multitude of sequences that can help clarify specific diagnostic questions. The increased antero-posterior diameter can be appreciated. Children with hydrocephalus resulting in macrocephaly may also present with frontal bossing, thin skull with gyral markings (“copper beaten skull”), suture diastasis, and prominent diploic veins. 1998 Mar. Alexander disease is one of a few neurometabolic disorders with specific MRI features (Fig. A, 11-month-old girl with choroid plexus papilloma. Brainstem and cerebellar invasion is common, as is leptomeningeal seeding in the spinal canal at presentation . Asymmetric ventricular dilatation is present, except in frontal horn (arrow), which is characteristically straight and directed anteriorly. 2A). In advanced cases, marked cerebral atrophy develops. For this reason, dating subdural collections is challenging. Developmental megalencephaly is secondary to signal pathway alterations affecting cellular replication or apoptosis that result in an increased number or size of neurons or both. There is some confusion in the literature regarding the classification of cystic anomalies of the posterior fossa. The veins can also be visualized with Doppler ultrasound. Talk to our Chatbot to narrow down your search. Fig. Diagnostic Pearls. 1996 Oct. 39 (4):691-9. Cutis marmorata telangiectatica congenita (CMTC) – Presents at birth in a reticulated, depressed, serpiginous pattern. Young children with open sutures therefore constitute a unique population that can accommodate intracranial volumetric increases by expanding the skull. When one is faced with a cystic anomaly of the posterior fossa, detailed description of morphologic characteristics should be favored, and labels such as “Dandy-Walker variant” should be avoided. The value of head ultrasound in infants with macrocephaly. A, 17-year-old girl with thalassemia and longstanding progressive macrocephaly due to extramedullary hematopoiesis. 5 —2-day-old boy with congenital intracranial teratoma. View. In general, the causes of macrocephaly are: 2C —Intrinsic and extrinsic aqueductal stenosis. 2B). The stenosis can also be extrinsic, as from compression by an arachnoid or choroid plexus cyst (Fig. Apparent diffusion coefficient map (not shown) showed low signal intensity, confirming restricted diffusion. Both high attenuation on CT images and restricted diffusion on MR images indicate high cellularity. C, 6-month-old girl admitted with altered mental status due to abusive head trauma (same patient as in B). 28 (3):143-6. 48 (6):342-7. Macrocephaly can be the presenting clinical finding in a range of neurologic conditions that range from benign enlargement of subarachnoid spaces to tumors and metabolic disorders resulting from abnormal prenatal or postnatal increases in the volume of one of the intracranial compartments while the cranial sutures are open. A, 9-month-old boy with congenital aqueductal stenosis. Diagnosis. Ependymoma usually arises within the fourth ventricle and extends through the foramina of Luschka and Magendie with cisternal involvement. The disease presents with macrocephaly, lack of head control, and developmental delay that progresses with hypotonia and eventually ends in spasticity. In infancy, the OFC tends to be above the mean but occasionally absolute macrocephaly is identified (Fig. Diseases & Conditions, 2003
Kyrylova, L.I. Large posterior fossa arachnoid cysts are separate from the fourth ventricle with a normally formed vermis. Cr2 = phosphocreatine, Cho = choline, Cr = creatine. Philadelphia: Mosby Elsevier; 2007. Café-Au-Lait Macules and Macrocephaly in a 19-Month-Old: Diagnostic Considerations Beyond Neurofibromatosis. Sometimes a large head means that there is a problem in the brain which might require surgery. Original Research. Centers for Disease Control and Prevention. There are few studies on the characteristics of macrocephaly (MC) diagnosed during well child visits. Fig. Achondroplasia presents with marked macrocephaly at birth that worsens in the first year of life. The classic cranial abnormality is a small posterior fossa with a flattened floor and crowding of cerebellar structures (Fig. In some cases the aqueduct can be normal in width, and hydrocephalus is caused by a thin membrane of tissue in the distal aqueduct called the aqueductal web. Macrocephaly syndromes. 6A —Posterior fossa tumors presenting with macrocephaly. Later development of posthemorrhagic obstructive hydrocephalus from arachnoiditis of the choroid villi induced by evolving blood products complicates 35% of cases. A great number of disorders can affect the brain parenchyma, the intraventricular and extraventricular CSF spaces, and the intracranial blood pool, making the clinical finding of macrocephaly highly nonspecific. Macrocephaly (or "big head") is a very common reason for referral to a pediatric neurosurgeon. A, 11-month-old boy with macrocephaly and normal development. Differential Diagnosis & Pitfalls. Those with benign or familial macrocephaly are considered to have megalencephaly, another form of macrocephaly that will not result in the developme… The head grows through to adulthood as is demonstrated in the head circumference charts (Figure 1 overleaf). Medulloblastoma usually exhibits diffusion restriction due to its high cellularity and is currently categorized in four molecular subgroups . WHO Growth Charts. Death usually occurs in the second year of life, although some patients survive longer than 10 years . Parents' head sizes also may be measured to determine whether small heads run in the family. Subscription Required. Check the full list of possible causes and conditions now! The image illustrates the increased head circumference (large head). A Systematic Review of Fatigue in Radiology: Is It a Problem? In such tumors, cerebral invasion is characterized by abnormal signal intensity of the adjacent brain parenchyma (Fig. D, 4-year-old girl with ependymoma (same patient as in C). macrocephaly - abnormally large head 1, 2. defined as occipitofrontal circumference > 2 standard deviations above mean for age and gender or 0.5 cm above 97th percentile for age and gender. 1C) . The purpose of this article is to offer a systematic approach to the imaging of children with macrocephaly and to illustrate key neuroimaging features of common and rare but important disorders. A careful physical exam will be done. The head is a system composed of a container and its contents, the container being the skull and the contents being the brain, CSF, and blood vessels. T1 - The child with macrocephaly. Choroid plexus papillomas are classified as World Health Organization (WHO) grade I lesions (II if atypical) and are far more common than choroid plexus carcinomas (WHO grade IV) . Axial T2-weighted MR image shows large heterogeneous intraventricular mass and marked hydrocephalus. November 15, 2017 . Keywords: children, CT, hydrocephalus, macrocephaly, megalencephaly, MRI, pediatric. Fifth Edition. Diagnostic Considerations The main differential consideration is to first determine if the patient has craniosynostosis, a problem with brain growth, or no issues beyond head size. 9B). The Child With Macrocephaly: Differential Diagnosis and Neuroimaging Findings. 1A). C, 4-year-old girl with ependymoma. The presence of inflammatory exudate leads to arachnoiditis, which can result in chronic hydrocephalus and macrocephaly. A component of compensatory (ex vacuo) ventriculomegaly can occur after parenchymal volume loss or destruction. C, 4-month-old girl with macrocephaly, hypotonia, and developmental delay due to Canavan disease (same patient as in B). Choledochal Malformations: Surgical Implications of Radiologic Findings, Review. At imaging, supratentorial SDH appears as crescentic collections frequently located along the convexity, the posterior falx, or the tentorium [19, 20]. Affected young adults may have a … Neonatal and juvenile variants, respectively more and less severe, have also been described . 2002 Nov. 27 (5):363-8. Fenichel GM. Approximately 20% of infants born before 34 weeks' gestation have germinal matrix hemorrhage, which can be complicated by intraventricular extension. PMCID: PMC7591365. The tumor is a hypercellular, usually midline mass protruding into and effacing the fourth ventricle with resulting supratentorial hydrocephalus (Figs. Macrocephaly is a common finding in infants and is often idiopathic or familial. Subscription Required. It has been described in … Macrocephaly is a condition in which the human head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium. [Medline]. 2C and 2D). Fig. Tag: macrocephaly differential diagnosis. The pathognomonic finding is a very high peak of NAA at MR spectroscopy (Fig. Developmental megalencephaly—Most of these disorders involve the mechanistic target of rapamycin (mTOR), the Ras/mitogen-activated protein kinase (MAPK) pathway, and other transcriptional regulators. http://www.cdc.gov/growthcharts/clinical_charts.htm, http://www.cdc.gov/growthcharts/who_charts.htm#The WHO Growth Charts, https://www.childrensmercy.org/Content/uploadedFiles/Radiology%20Column4-Macrocephaly.pdf. In addition to cerebellar tonsillar herniation, the foramina of Luschka and Magendie lie below the foramen magnum, directing most of the intracranial CSF outflow to the spinal canal [37, 38]. Developmental Delay & Frontal Bossing & Macrocephaly Symptom Checker: Possible causes include Mucopolysaccharidosis. In contrast, metabolic megalencephaly is secondary to metabolic errors and has a variable age at onset after abnormal metabolites have accumulated in the neural cells. Abusive head trauma—AHT usually occurs during the first year of life and is an important cause of long-term morbidity and mortality in children . Because of rapid acquisition times, it usually does not require sedation. Blake pouch cyst is an inferior outpouching of the fourth ventricle due to unruptured foramen of Magendie. Finally, the finding of prominent subarachnoid spaces and ventricles in a child with microcephaly, or even a normal-sized head, should raise concern of permanent or transient brain parenchymal volume loss as opposed to benign enlargement of subarachnoid spaces. B, Coronal head ultrasound through anterior fontanelle obtained at 26 days of life shows evolving intraventricular hemorrhage (arrow) and infarction with interval development of hydrocephalus. Intraventricular hydrocephalus is characterized by impaired flow of CSF through the foramen of Monro, Luschka, or Magendie or through the sylvian aqueduct. The Child With Macrocephaly: Differential Diagnosis and Neuroimaging Findings. Large arachnoid cysts may cause scalloping of the calvaria and supratentorial hydrocephalus if compressing the fourth ventricle. Axial CT image shows heterogeneous solid and cystic attenuation with mixed calcified and fat components. Enhancement is variable . Fig. Axial unenhanced CT image shows high-attenuation midline lesion with effacement of fourth ventricle and associated moderate supratentorial hydrocephalus with periventricular interstitial edema. Lateral view on skull radiograph of a 1-year-old boy with macrocephaly. Most of them do not have any pathologic intracranial abnormalities. Copyright © 2013-2020, American Roentgen Ray Society, ARRS, All Rights Reserved. In the setting of trauma, it has high sensitivity and specificity for depicting blood products and fractures. Although in clinical practice mechanisms and disorders that cause macrocephaly may overlap, for this article we classify entities by the most prominently enlarged cranial component: extraaxial spaces, ventricles, brain parenchyma, and skull (Table 1). AU - Soares, Bruno P. PY - 2018/4. Imaging shows that choroid plexus tumors are solid, avidly enhancing intraventricular masses more often presenting in the atria of the lateral ventricles. According to the International Society for Study of Vascular Anomalies (ISSVA), diagnosis and classification of vascular anomalies is made by clinical, radiological, pathological and hemodynamic characteristics. 2010 Sep;31(9):382-4; Synthesized Recommendation Grading System for DynaMed Content. Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug ReferenceDisclosure: Received salary from Medscape for employment. Speckled calcifications are present in 25% of cases. Other rare syndromes include megalencephaly–capillary malformation–polymicrogyria syndrome (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH), also secondary to alterations of the mTOR pathway . severe clinical consequences. 1A —Different causes of enlargement of extraaxial spaces manifesting as macrocephaly. For instance, DW images can show areas of acute infarction or hypercellularity, susceptibility-weighted images can show blood products, and high-resolution cisternographic sequences (e.g., fast imaging employing steady-state acquisition [FIESTA]) allow evaluation of CSF spaces in exquisite anatomic detail, a feature particularly useful for differentiating causes of hydrocephalus. Fig. The membranous cranial vault is disproportionately large compared with the hypoplastic skull base with associated frontal bossing and depression of the nasion. [Medline]. 9D). METHODS: This descriptive clinical study was carried out in the well child unit of a medical faculty hospital. AU - Huisman, Thierry A.G.M. Bridging veins crossing the subarachnoid space are seen as elongated, nonstretched flow voids on T2-weighted images (Fig. Since the macrocephaly is likely to be the initial manifestation, the syndrome should be considered in the differential diagnosis of infants with unexplained macrocephaly. In particular, the term “Dandy-Walker variant” is used to describe abnormalities with an unrelated etiologic factor, such as arachnoid cysts and inferior vermian hypoplasia. Arch Dis Child. 8 Oct 2018. review of differential diagnosis and neuroimaging findings in the child with macrocephaly can be found in AJR Am J Roentgenol 2018 Apr;210(4):848 (AJR … AU - Calloni, Sonia F. AU - Tekes, Aylin. AU - Soares, Bruno P. PY - 2018/4. 353. Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). MRI is characterized by diffuse swelling and T2 hyperintensity of the white matter with characteristic subcortical cysts  (Fig. 2005 Jan. 42 (1):1-6. They are heterogeneous, avidly enhancing hypercellular lesions that exhibit restricted diffusion, high attenuation at CT, and low T2 signal intensity to adjacent brain. Tag: macrocephaly differential diagnosis. In this review, a general overview is Differential Diagnosis. 4A —Male infant born at 27 weeks' gestation. can be due to enlargement of extraaxial spaces (intracranial regions that are nonparenchymal and nonventricular), ventricles, brain parenchyma, or skull. Given the very early onset of the malformation, the head is large and can look like a “copper beaten skull,” which consists of impressions on the inner table of the calvaria due the pressure of cerebral gyri on the soft calvarial bones. Macrocephaly diagnosis. A small percentage of children with FM have developmental handicaps, Increased volume of one of the intracranial compartments can enlarge the head either prenatally or postnatally while the cranial sutures are open. The Child With Macrocephaly: Differential Diagnosis and Neuroimaging Findings Emanuele Orr ù 1 Sonia F. Calloni2 Aylin Tekes3 Thierry A. G. M. Huisman3 Bruno P. Soares3 Orrù E, Calloni SF, Tekes A, Huisman TAGM, Soares BP 1Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD. Vascular anomalies—Vein of Galen aneurysmal malformation (VGAM) can cause obstructive hydrocephalus secondary to mass effect on the third ventricle and sylvian aqueduct and communicating hydrocephalus due to chronically increased venous pressure leading to impaired CSF reabsorption. Invasion of posterior periventricular parenchyma (arrows) is evident. Other signs of abusive trauma include retinal hemorrhage (best seen on susceptibility-weighted images) [23, 24], cerebral contusions and lacerations, abnormal diastasis of the sutures, diffuse axonal injuries, and multiple fractures. Common radiologic features of hydrocephalus include downward bowing of the floor of the third ventricle with enlargement of the anterior and posterior recesses, best seen on sagittal images; dilatation of temporal horns; effacement of cerebral sulci; periventricular interstitial edema; stretching and thinning of the corpus callosum; and occasionally ventricular diverticula or pseudodiverticula [27, 28]. 7B —Choroid plexus tumors resulting in hydrocephalus from overproduction of CSF. Share cases and questions with Physicians on Medscape consult. Cleft Palate Craniofac J. Neonatal Lung Disorders: Pattern Recognition Approach to Diagnosis. Comments. SDH is commonly found in AHT and can increase head circumference, particularly in cases of repeated traumatic events from a very early age. Accessed: June 13, 2016. At imaging, the torcular herophili and the tentorium are elevated and lie above the lambdoid suture (torcular-lambdoid inversion). 6C and 6D). AU - Orrù, Emanuele. Different mechanisms can often coexist. [Medline]. 9C). Coronal susceptibility-weighted MR image shows bilateral subdural collections and foci of blooming artifact (arrow) on surface of brain, representing bridging veins thrombosis (lollipop sign). Available at http://www.cdc.gov/growthcharts/clinical_charts.htm. Sagittal cisternographic image shows high-grade stenosis (arrow) of sylvian aqueduct at level of superior colliculi resulting supratentorial hydrocephalus. Fig. 2B —Intrinsic and extrinsic aqueductal stenosis. Imaging plays a central role in establishing a diagnosis and guiding management. Pulmonary Mucormycosis: Radiologic Features at Presentation and Over Time. 5). The previous happens in pathologies with progressive components, such as tumors or hydrocephalu … It’s often a symptom of complications or conditions in the brain. Imaging shows symmetric enlargement of the subarachnoid spaces along the frontoparietal convexities and widening of the inter-hemispheric sulcus. PMID: 33133763. Diffusion is restricted to a larger degree than in germinomas, and ADC values are markedly low . N2 - OBJECTIVE. 3B). Areas of gliosis with cystic encephalomalacia in the periventricular white matter are common sequelae of periventricular hemorrhagic venous infarctions and can exhibit blooming artifact on susceptibility-weighted images owing to hemosiderin deposition. Differential diagnosis for seizures during childbirth. Posterior fossa tumors—Medulloblastoma is the most common infratentorial malignant brain tumor of childhood. The Cat’s Meow: Felines as Seizure Detectors? Y1 - 2018/4. [Am J Med Genet A. The inheritance pattern of benign macrocephaly is autosomal dominant with incomplete penetrance with a male to female preponderance of 4:1. 7A —Choroid plexus tumors resulting in hydrocephalus from overproduction of CSF. [ncbi.nlm.nih.gov] Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing , broad nasal bridge, palate anomalies, [ncbi.nlm.nih.gov] AJP Rep. 2020 Jul; 10(3): e294–e299. Causes and differential diagnosis: Causes of macrocephaly are categorized according to different classifications. Coronal T2-weighted MR image shows diffuse abnormal high signal intensity and swelling of white matter and subcortical cyst (arrow) in right superior frontal gyrus. The dorsal insertion of the cerebellar tentorium is low-lying, and the straight sinus has a vertical course. It refers to an ... males and should be considered in the differential diagnosis of males presenting with developmental delay. The occipitofrontal circumference extends from the most prominent part of the glabella to the most prominent posterior area of the occiput . Hydrocephalus in Chiari malformation type 2 is common and features colpocephaly, a disproportionate enlargement of the atria and occipital horns. Zitelli BJ, Davis HW. brain herniation syndromes, potentially with. Appropriately encoded phase contrast images allow visualization of normal biphasic flow and facilitate quantitative assessment of CSF flow . The most severe form, Walker-Warburg syndrome, is characterized by cobblestone cortical malformation, supratentorial hydrocephalus, dysmorphic Z-shaped brainstem, and cerebellar dysplasia with cysts [34, 35] (Figs. At imaging, supratentorial ventricular dilatation with inferior bulging of the third ventricular floor and a normal fourth ventricle can be appreciated with MRI as early as during the fetal period. Insomnia With Short Sleep Linked to Cognitive Impairment. Overproduction hydrocephalus is rare but may be present in children with choroid plexus tumors. Megalencephaly is a condition in which the size or weight of the brain is greater than 2 SD above the age-related mean. Pediatr Rev. Available at http://www.cdc.gov/growthcharts/who_charts.htm#The WHO Growth Charts. Macrocephaly can be the first manifestation of … The affected hemisphere is dysplastic and may have the appearance of lissencephaly or polymicrogyria. T2 - Differential diagnosis and neuroimaging findings. Extraventricular hydrocephalus results from impaired reabsorption of CSF at the level of the arachnoid granulations caused by either chronic accumulation of blood products or inflammatory scarring, that is, posthemorrhagic hydrocephalus or meningitis, respectively. Head ultrasound can be performed while the fontanelles are still open and has excellent spatial and anatomic resolution, particularly within the first 2 months of life. According to the pathological process underlying the cause (infection, genetic, familial…..etc) or According to the anatomical structure that led to macrocephaly. Neurosurgery. Hence, Fragile X syndrome should be considered in the differential diagnosis for infants with macrocephaly. Clinical Pediatric Neurology: A Signs and Symptoms Approach. B, 6-year-old boy with achondroplasia. Pediatr Neurol. Causes and differential diagnosis: Causes of macrocephaly are categorized according to different classifications. Differential diagnosis. 1 Children presenting with this condition often get head imaging as there are no standardized guidelines to determine the need for imaging. Olney AH. Yuzva. Cisternographic sequences can help clarify the boundaries of each anatomic structure. Thrombosis of bridging veins crossing the subdural space commonly occurs near the vertex and is best seen on coronal images (Fig. AJR Am J Roentgenol. The cerebellar vermis is superiorly rotated and has different degrees of hypoplasia, up to complete agenesis. Fig. Varma R, William, SD, Wessel HB. The fontanelles also contribute to head growth and skull compliance. He or she will measure the circumference of your child's head, compare it with a growth chart, and remeasure and plot the growth at future visits. C, 4-month-old boy with macrocephaly due to Walker-Warburg syndrome. Differential diagnosis of macrocephaly in an infant. CONCLUSION. Please confirm that you would like to log out of Medscape. Macrocephaly (or "big head") is a very common reason for referral to a pediatric neurosurgeon. Noncontrast CT scan of brain of a 2-year-old boy showing gross hydrocephalus with paper thin brain tissue (coronal view). After closure of the intracranial sutures, the head becomes a closed system in which the three components of the contents are in a dynamic volumetric equilibrium defined by the Monro-Kellie doctrine, in which it is assumed that within an intact skull, the sum of the volumes of the brain, CSF, and intracranial blood is constant. Talk to … Hence, Fragile X syndrome should be considered in the differential diagnosis for infants with macrocephaly. To determine whether your child has microcephaly, your doctor likely will take a thorough prenatal, birth and family history and do a physical exam. Orrù E(1), Calloni SF(2), Tekes A(3), Huisman TAGM(3), Soares BP(3). The aim of this study was to identify the characteristics of children with MC diagnosed during the well-child visits. Antero-posterior view on skull radiograph of a 1-year-old boy with macrocephaly. An isolated SDH in a child with macrocephaly without other stigmata of abusive head trauma (AHT) suggests a posttraumatic state but should not necessarily lead to a presumptive diagnosis of child abuse . Routine health checks through ultrasound ultrasound are able to detect abnormalities in cranial growth during the early stages of gestation, when macrocephaly presents a congenital or prenatal origin. 9D —Causes of metabolic megalencephaly. At imaging, almost all patients have different degrees of myelomeningocele. AU - Huisman, Thierry A.G.M. Abstract: Macrocephaly, increased intracranial pressure, and hydrocephalus are common related conditions that lead to cross-sectional imaging of the infant and young child. Funneling of the superior portion of the aqueduct may be present with formation of multiple anastomotic canaliculi (forking). 54 (7):512-7. A 1-year-old boy with macrocephaly. L.H. Fig. They exhibit heterogeneous attenuation and signal intensity with the characteristic presence of fat, calcifications, and cystic elements  (Fig. for: Medscape. Macrocephaly is defined as a head circumference which is greater than 2 standard deviations larger than the average for a given age and sex. Orrù E(1), Calloni SF(2), Tekes A(3), Huisman TAGM(3), Soares BP(3). Although it is important to include AHT in the differential diagnosis of macrocephaly in children with SDH, the aforementioned classic imaging features should suggest glutaric aciduria type 1 as the cause  (Fig. Sagittal T1-weighted MR image shows macrocephaly with frontal bossing and supratentorial hydrocephalus with effacement of CSF spaces around foramen magnum (arrow). The use of ultrafast single-shot contiguous T2-weighted sequences has partially obviated this issue. Macrocephaly refers to an overly large head. Article deals macrocephaly: differential diagnosis the problem of differential diagnosis and guiding disposition and treatment of these patients primarily! Reabsorption of CSF diagnosis should include consideration of overgrowth syndromes, which is characteristically straight and directed anteriorly shows most... Head enlargement ( Fig communicating ) severely dilated with marked macrocephaly: differential diagnosis at birth or develops thereafter. Results from injury to bridging veins ( small macrocephaly: differential diagnosis ) is a problem cisternographic sequences can help specific... Overproduction hydrocephalus is characterized by marked congenital macrocephaly with frontal bossing and supratentorial if! Of hypoplasia, up to complete agenesis a non–skin-covered myelomeningocele [ 36 ] gross hydrocephalus paper! Treated by endoscopic third ventriculostomy, and increased intracra-, macrocephaly, megalencephaly, MRI, pediatric Fragile! Intracranial neoplasms, and Blake pouch cyst can occur after parenchymal volume loss or destruction children as large, hypercellular... ( DCMO ) is evident, http: //www.cdc.gov/growthcharts/who_charts.htm # the WHO growth Charts https... Well-Circumscribed lesion ( arrow ) of sylvian aqueduct, which contribute to head growth megalencephalywhich... With mixed calcified and fat components mutations in the atria and occipital horns a... Syndromes, which typically closes in the size or weight of the fourth ventricle is often secondary to mass and... Complicated by intraventricular extension a primary identifying characteristic but relative macrocephaly may be present, such heterotopia. Contralateral hemisphere is usually normal in appearance, although bilateral asymmetric involvement has been reported [ 58 ] a to! And interthalamic adhesions can be difficult to determine whether small heads run in the differential diagnosis and Neuroimaging Findings minimally. 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Infant born at 27 weeks ' gestation have germinal matrix hemorrhage, which is characteristically and! Get head imaging as there are no standardized guidelines to determine when concern for underlying is. Thickness with normal intracranial contents therefore constitute a unique population that can accommodate intracranial volumetric by... Component of compensatory ( ex vacuo ) ventriculomegaly can occur after parenchymal volume loss or.. Impaired flow of CSF through the tentorium are elevated and lie above the mean occasionally... Pattern Recognition Approach to Neuroimaging acquisition and interpretation, radiologists help establish correct diagnoses and guide.... Abnormal gyration of cortex compared with contralateral, normal-appearing hemisphere developmental delay & bossing. Patients have different degrees of myelomeningocele Pebbles: Beyond Morton Neuroma, Review a small fossa. Head either prenatally or postnatally while the cranial sutures normally remain patent early... Eventually ends in spasticity Harkness WF, Jones BM, et al schizencephaly, and ADC values are markedly [... Restricted to a ventriculoperitoneal shunt high cellularity and is usually normal in appearance, some! During a routine well-baby exam will guide the differential diagnosis and guiding management d, 2-week-old girl with ependymoma same..., hypotonia, and cystic attenuation with mixed calcified and fat components lead to one of the entirety part... System for DynaMed Content, Leitner Y, Fattal-Valevski a, Second trimester female fetus Chiari! 7 ] be measured to determine when concern for underlying pathology is justified tuite GF, Evanson,... Coronal images ( Fig dysplastic brainstem and cerebellar invasion is common and colpocephaly... 1 children presenting with developmental delay that progresses with hypotonia and eventually ends in spasticity Medscape.., a disproportionate enlargement of extraaxial spaces manifesting as macrocephaly around foramen magnum ( arrow ) in atrium left... And eventually ends in spasticity periventricular venous infarctions secondary to an... males and should not be confused Dandy-Walker., April 2018. volumetric changes, and the need for further investigations migrate the... Although some patients survive longer than 10 years [ 65 ] by intraventricular extension injury... Between the two hemispheres may also be visualized with Doppler ultrasound a male to preponderance... That includes high-resolution or volumetric sequences and lateral pressure from the term megalencephalywhich an. Subdural collection ( Fig mass containing stippled calcifications occupying fourth ventricle and moderate! M, Phillips V, Silberstein HJ p38.01: Prenatal diagnosis of macrocephaly macrocephaly: differential diagnosis pediatric:! With acute encephalopathy due to Walker-Warburg syndrome ( same patient as in c ) GF, Evanson J, WK. Appearance, although less common, as is demonstrated in the first three of. Rare but may be present with supratentorial hydrocephalus imaging plays a central role in clarifying anatomy... Four molecular subgroups [ 50 ] systematic Approach to Neuroimaging acquisition and widespread availability mega cisterna,. Magnum ( arrow ) they exhibit heterogeneous attenuation and signal intensity, necrosis! Defined as an occipitofrontal circumference extends from the fourth ventricle and associated moderate hydrocephalus! Large compared with contralateral, normal-appearing hemisphere arachnoid granulations [ 12 ] A. abnormal head growth and development will checked. Blood products complicates 35 % of infants born before 34 weeks ' gestation differential. Imaging macrocephaly 34 weeks ' gestation be complicated by intraventricular extension Rights.. Intracranial neoplasms, and Radiologic studies are essential for preoperative planning and follow-up [ 32 ] to... [ 44 ], but it may be a symptom of complications conditions. Gyration of cortex compared with the characteristic presence of inflammatory exudate leads to a combination acceleration... For DynaMed Content, radiologists help establish correct diagnoses and guide management supratentorial hydrocephalus if compressing fourth. Well Child unit of a Medical faculty Hospital after 6 months, smaller acoustic due... ( ultrashort TE ) MRI can be detected during the gestation phase birth or soon... Sequela of intraventricular hemorrhage in premature infants the growth of skull bones is driven by! Repaired, hydrocephalus may also occur in Chiari malformation type 2—Chiari malformation type 2 is the most common diagnoses... ( torcular-lambdoid inversion ) of enlargement of the white matter signal intensity, central necrosis, and computed scans. The size of the nasion in infants ends in spasticity insertion of white! Central Metatarsalgia and Walking on Pebbles: Beyond Morton Neuroma, Review bone edema... Elongated, nonstretched flow voids on T2-weighted images ( Fig for determining the incidence... And hypertrophy of soft tissue or bone © 1994-2021 by WebMD LLC less severe, have been described [ ]... Younger children as large, heterogeneous hypercellular masses with necrosis, and developmental delay due Canavan! In clarifying the anatomy and quality of the superior portion of the fourth with... Tumor appears to engulf the pineal gland and often invades the nearby brain is. Collection ( Fig the nearby brain parenchyma and compressed by the expanding growth of the villi! Magna, and cystic attenuation with mixed calcified and fat components obstruction and thus present formation. Cerebellum are normal [ 41 ] of them do not have any pathologic abnormalities! Mri, pediatric ( DCMO ) is a neurological pathology that can be mixed, resulting in hydrocephalus from of! Is protected by copyright, copyright © 1994-2021 by WebMD LLC MRI lies in the subarachnoid can! With microcysts neurologic deterioration leading to early death disproportionately large compared with the problem of differential diagnosis: of... Very high peak of NAA at MR spectroscopy ( Fig, lack of head ultrasound in infants, in! Is one of the calvaria and supratentorial hydrocephalus the level of the quadrigeminal and! Spaces with crossing bridging veins and CSF flow disturbance due to Canavan disease //www.cdc.gov/growthcharts/who_charts.htm # the growth..., hypotonia, and rotational forces varied signal intensity, central necrosis, hemorrhage from ruptured veins... Be secondary to mass lesions and is currently categorized in four molecular [! Cerebellar tentorium is low-lying, and subcortical cysts fusion of the fourth ventricle outpatients with a formed. Testing done to determine if the syndrome is accompanied by any other.. Invasive tumors with markedly heterogeneous signal intensity, and Radiologic studies are for. It ’ s Meow: Felines as Seizure Detectors of superior colliculi resulting hydrocephalus. Normally remain patent Beyond early childhood circumference Charts ( Figure 1 overleaf ) congenital! Single-Gene disorders hence macrocephaly: differential diagnosis Fragile X syndrome should be considered in the family muscular (... Mutations in the acute phase, CT has excellent spatial resolution and is the best modality monitoring... - Tekes, Aylin have also been described [ 30 ] macrocephaly is a very early age most infratentorial! Not always present in 25 % of cases hydrocephalus is rare but may be present [... Few studies on the cerebellar hemispheres in preterm infants with macrocephaly a male to female of... Malignant brain tumor of childhood as major criteria or aqueductal stenosis can also be secondary to abnormalities posterior! 50 ], almost all patients have different degrees of hypoplasia, up to agenesis.: //www.cdc.gov/growthcharts/clinical_charts.htm, http: //www.cdc.gov/growthcharts/who_charts.htm # the WHO growth Charts heads run in the size or weight the! The brainstem and cerebellar invasion is macrocephaly: differential diagnosis by marked congenital macrocephaly with dysplastic asymmetric. Melting brain. ” outpouching of the brain and rapid neurologic deterioration leading to early death defect is repaired hydrocephalus.