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PubMedDate not supplied

An infant with macrocephaly, abnormal neuronal migration and persistent olfactory ventricles.

An asphyxiated male infant was delivered by cesarean section at 38 weeks gestation. The patient was macrocephalic with clinical evidence of fetal immobility syndrome. He died aged two days. Autopsy revealed excessive brain weight, pachygyria, enlarged olfactory tracts and hypoplastic optic nerves. Microscopy revealed evidence of impaired neuronal migration throughout the cortex. The olfactory bulbs showed persistence of the primitive olfactory ventricles and absence of olfactory glomeruli. There was persistence of the fetal connection between lateral and olfactory ventricles. The lateral geniculate nuclei, inferior olivary nuclei and dentate nuclei of the cerebellum were abnormally formed. Relevant aspects of fetal brain development and clinical neuropathologic syndromes are discussed.

Abnormalities, Multiple↗
PubMed1997

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.

We describe 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. Although the condition in these children falls under the general group of disorders known as cutis marmorata telangiectatica congenita (CMTC), the constellation of abnormalities appears to constitute a distinct and easily recognizable phenotype within this general group. In contrast to most children reported with CMTC, children in this subgroup have a high risk for neurologic abnormalities, including developmental delay, mental retardation, megalencephaly, and hydrocephalus. Early recognition of this condition is important for appropriate surveillance for known complications and parental counseling.

Abnormalities, Multiple↗
PubMed2006

Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism.

Data from 10 sites of the NICHD/NIDCD Collaborative Programs of Excellence in Autism were combined to study the distribution of head circumference and relationship to demographic and clinical variables. Three hundred thirty-eight probands with autism-spectrum disorder (ASD) including 208 probands with autism were studied along with 147 parents, 149 siblings, and typically developing controls. ASDs were diagnosed, and head circumference and clinical variables measured in a standardized manner across all sites. All subjects with autism met ADI-R, ADOS-G, DSM-IV, and ICD-10 criteria. The results show the distribution of standardized head circumference in autism is normal in shape, and the mean, variance, and rate of macrocephaly but not microcephaly are increased. Head circumference tends to be large relative to height in autism. No site, gender, age, SES, verbal, or non-verbal IQ effects were present in the autism sample. In addition to autism itself, standardized height and average parental head circumference were the most important factors predicting head circumference in individuals with autism. Mean standardized head circumference and rates of macrocephaly were similar in probands with autism and their parents. Increased head circumference was associated with a higher (more severe) ADI-R social algorithm score. Macrocephaly is associated with delayed onset of language. Although mean head circumference and rates of macrocephaly are increased in autism, a high degree of variability is present, underscoring the complex clinical heterogeneity of the disorder. The wide distribution of head circumference in autism has major implications for genetic, neuroimaging, and other neurobiological research.

Adolescent↗
PubMed1981

The Weaver syndrome: a rare type of primordial overgrowth.

A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported. Two cases in the literature- referred to as Weaver syndrome- exhibited nearly identical anomalies. All three cases were sporadic. Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay. Further symptoms are thin, deep-set nails, talipes equinovarus, widened distal femora, and some minor abnormalities. A second boy with primordial overgrowth and macrocephaly demonstrated some, but not all, the symptoms of this syndrome. Whether this boy showed a milder expression of the Weaver syndrome or benign familial macrocephaly is discussed.

Abnormalities, Multiple↗
PubMed2005

Accelerated head growth in early development of individuals with autism.

Macrocephaly is one of the most consistent physical findings reported in autistic individuals. Previous studies attempted to determine if macrocephaly is associated with risk for autism. This study hypothesizes that an abnormal acceleration in head growth during early development, rather than macrocephaly, is associated with autism risk. To investigate this hypothesis, head circumference data were examined in 251 individuals from 82 multiplex (at least two individuals with autism) and 113 sporadic (no family history) families with autism. This examination included longitudinal measurements for 79 individuals. Nineteen percent of the original 251 individuals were found to have macrocephaly (head circumference >97%). Abnormal acceleration in head growth was defined as an increase of 25 or more percentile points in head circumference between two consecutive measurements. Thirty-five percent of individuals with multiple head circumference records had an abnormal increase in head circumference. Furthermore, autistic individuals with accelerated head growth in early childhood displayed higher levels of adaptive functioning and less social impairment. This study confirms the presence of abnormal acceleration in head growth during the first and second months of life in a subgroup of autistic individuals.

Adaptation, Psychological↗
PubMed1998

Neurofibromatosis type 1 in childhood: evaluation of clinical and epidemiologic features as predictive factors for severity.

The authors evaluated clinical and epidemiologic features of neurofibromatosis type 1 (NF-1) as predictive factors of severity of the disease. The data were retrieved from medical records of 110 children with NF-1 followed up during the period 1974-1991 (mean duration of follow-up 6.7 years). Presence of macrocephaly correlated with higher grade of severity of the disease (P = 0.018). Familial NF-1 was more common in patients with grade 4 disease than in children with grade 1 severity (P < 0.05; odds ratio 2.9, confidence limits 0.85-10.5). The specificity of positive family history and macrocephaly as predictive factors for the grade 4 disease was 90% and 89%, respectively, and sensitivity was 71% and 36%, correspondingly. Positive predictive value of familial NF-1 and macrocephaly was 24% and 31%, respectively. In conclusion, although patients with family history of NF-1 and with macrocephaly tend to have more severe disease, the clinical utility of these features as predictive factors for severity is limited.

Child↗
PubMed2004

Hydrocephalus in children with middle fossa arachnoid cysts.

OBJECT: The optimal management of children with middle fossa arachnoid cysts (MFACs) remains controversial. In this study the authors evaluated the relationship between two preoperative variables, hydrocephalus and nonspecific macrocephaly, in children undergoing fenestration of temporal arachnoid cysts and hydrocephalus-related shunt placement. METHODS: During a 16-year period, 40 children (30 boys and 10 girls) underwent treatment of MFACs. All but one patient experienced either worsening symptoms or progressive serial imaging-documented cyst enlargement. Hydrocephalus was present in six patients and nonspecific macrocephaly in another nine. The mean age at surgery was 66 months (range 1-201 months, median 36 months), and the mean follow-up duration was 54 months (range 6-83 months, median 39 months). All patients presenting with hydrocephalus required placement of a ventriculoperitoneal (VP) shunt as well as cyst fenestration, regardless of which procedure was performed first. Five patients with macroencephaly undergoing initial fenestration required subsequent VP shunt insertion. Complications of cerebrospinal fluid (CSF) diversion were typical. CONCLUSIONS: Patients with hydrocephalus or macrocephaly are likely to require VP shunt placement in addition to cyst fenestration. Children with nonspecific macrocephaly may harbor a latent derangement of CSF circulation.

Adolescent↗
PubMed1978

Megalencephaly in infants and children. The possible role of increased dural sinus pressure.

Seven children studied because of clinical macrocephaly and suspected hydrocephalus ultimately proved to have megalencephaly apparently due to an increase in sagittal sinus venous pressure as established from infusion studies. Unexplainably, these patients were all males. All were seen initially between 2 and 8 months of age. Head enlargement exceeded two standard deviations in all seven. Pneumoencephalography, ventriculography, or computerized tomography demonstrated normal or minimally enlarged ventricles that did not progress in size. Isotope cisternography was abnormal. Studies of CSF formation and absorption demonstrated normal absorption rates but high calculated sagittal sinus pressures. Though therapy was usually not required, in one unusual infant, severe progressive macrocephaly with minimal hydrocephalus required a shunt. Another had a transient episode of acute hydrocephalus associated with a low CSF absorption rate and ventricular enlargement. In this report, we review the intracranial hydrodynamics of benign intracranial hypertension (BIH), communicating hydrocephalus, and the pathogenesis of megalencephaly. Benign intracranial hypertension and the type of megalencephaly demonstrated by our patients appear to develop similarly except that the presence of open cranial sutures may allow a transient nonhydrostatic loading of brain parenchyma in infants, resulting in mild, nonprogressive macrocephaly.

Brain↗