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PubMed2000

Cole-Hughes macrocephaly syndrome and associated autistic manifestations.

Based on cases that had been excluded from a previous clinical study of Sotos syndrome, Cole and Hughes [1991: Am J Med Genet 41:115-124] reported a new syndrome associated with marked obesity, occasional delayed bone age, distinctive facial anomalies, mental retardation, and progressive postnatal macrocephaly in the context of autosomal dominant familial macrocephaly. Subsequently, Stevenson et al. [1997: Lancet 349:1744-1745] emphasized the association of progressive postnatal macrocephaly with autism, and they suggested that this might comprise a recognizable autism syndrome. We report two additional patients with Cole-Hughes syndrome and associated autistic characteristics with attention deficit hyperactivity disorder. These patients seem to manifest a distinctive behavioral phenotype associated with Cole-Hughes syndrome and they manifest a distinct subgroup of persons with autism that may ultimately shed light on the pathogenesis of this disorder.

Attention Deficit Disorder with Hyperactivity↗
PubMed1998

The value of head ultrasound in infants with macrocephaly.

OBJECTIVE: To assess the value of head ultrasound (HUS) in neurologically normal infants with macrocephaly and to develop a rational approach to radiological investigation of macrocephalic infants. MATERIALS AND METHODS: A retrospective analysis of infants with macrocephaly (seen by one pediatric neurologist at this institution) was conducted. Infants with normal neurological examinations, no evidence of raised intracranial pressure and who had undergone a HUS were included. RESULTS: Twenty-seven infants were included in the analysis. Mean age at first assessment was 4.8 months. In 12 of 27 (44%), HUS was reported as normal. The remaining 15 had clinically insignificant abnormalities on HUS; 7 had prominent ventricles and 7 had increased subarachnoid fluid, with 1 infant having both. Seven infants had CT or MRI in addition to HUS. No clinically significant abnormalities were seen on CT or MRI scans that were not evident on HUS. Four infants had mild developmental abnormalities on initial evaluation. Mean duration of follow-up was 13.1 months. No infant developed neurological abnormalities during the follow-up period. CONCLUSION: In infants with macrocephaly with a normal neurological examination and no signs of raised intracranial pressure, HUS in conjunction with close neurological follow-up is reliable for the detection or exclusion of relevant intracranial pathology.

Abnormalities, Multiple↗
PubMedDate not supplied

Macrocephaly and chromosome disorders: a case report.

We report the case of a young patient with macrocephaly. After excluding the most frequent causes of macrocephaly (hereditary disorders, degenerative, osseous and metabolic diseases, neurocutaneous syndromes and cerebral malformations), the likelihood of a chromosome disorder was investigated, revealing an unbalanced de novo translocation: 46,X,der(X),t(X;7) (q13 or q13.2; q11.23 or q21.11), i.e., a partial trisomy of the long arm of chromosome 7, associated with a partial monosomy of the long arm of chromosome X. Though this chromosome disorder is relatively rare, it should be considered in the differential diagnosis of patients under one year of age presenting with macrocephaly, scoliosis and non-progressive psychomotor retardation.

Brain↗
PubMed2001

Association between idiopathic infantile macrocephaly and autism spectrum disorders.

We conducted a case-controlled, catch-up study of a cohort of boys born with macrocephaly in order to determine whether infantile macrocephaly is a risk marker for the later development of autism spectrum disorders. Our results show that infantile macrocephaly was associated with an increased risk of developing autism spectrum disorders (odds ratio 5.44, 95% CI 1.11-52.15; p=0.03). These findings suggest that neurobiological differences during infancy may predict behavioural manifestations of autism spectrum disorders.

Autistic Disorder↗
PubMed1999

Microcephaly and macrocephaly in autism.

Data from a series of 126 autistic children ages 2-16 years and referred to an Autism Diagnosis Unit in South-West France were examined. Macrocephaly (head circumference > 97th centile) was observed in 16.7% of the sample, a significantly higher proportion than that expected. Macrocephaly was more frequent among older subjects but was otherwise not associated with gender, developmental level, the presence of epilepsy or of medical disorders, or severity of autistic symptomatology. Microcephaly (head circumference < 3rd centile) was also significantly raised and found in 15.1% of the sample. Microcephaly was significantly associated with the presence of medical disorders. Results support those from recent studies suggesting a raised rate of macrocephaly in autism which, pooling published data, can be estimated to be 20%. It is argued that the raised incidence of microcephaly among low-functioning autistic subjects with medical disorders might have contributed to delay the recognition of an increased head circumference among a minority of subjects with idiopathic autism.

Adolescent↗
PubMed2005

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as overgrowth and macrocephaly. Therefore, we undertook PTEN gene mutation analysis in 18 subjects mainly prospectively ascertained with autism spectrum disorder and macrocephaly. Of these 18 autistic subjects (13 males and five females; ages 3.1-18.4 years) with a head circumference range from 2.5 to 8.0 standard deviations above the mean, three males (17%) carried germline PTEN mutations. These three probands had previously undescribed PTEN mutations: H93R (exon 4), D252G (exon 7), and F241S (exon 7). They had the larger head circumference measurements amongst all our study subjects. The three residues altered in our patients were highly evolutionarily conserved. We suggest that PTEN gene testing be considered for patients with autistic behaviour and extreme macrocephaly. The gene findings may impact on recurrence risks as well as medical management for the patient.

Adolescent↗
PubMed1992

Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.

The muscle biopsy results from 14 children with macrocephaly and hypotonia/weakness were correlated with clinical findings compatible with any of the autosomal dominant macrocephaly syndromes. Thirteen of the 14 had evidence of lipid storage myopathy, either generalised or focal. All 13 had examinations consistent with either benign familial macrocephaly, Ruvalcaba-Myhre-Smith syndrome, or Bannayan-Zonana syndrome. These results suggest that all three of these disorders may represent phenotypic variability at a single genetic locus.

Abnormalities, Multiple↗
PubMed1998

A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21.

A family with X linked inheritance of mental retardation (XLMR) is presented. There are 10 mentally retarded males and two affected females in two generations. There are four obligatory carriers, one of whom is described as "slow". Most affected males show macrocephaly and macro-orchidism, which are typical signs of the fragile X syndrome, but have been tested cytogenetically and by analysis of the FMR1 gene and do not have this syndrome. However, some normal males in the family also exhibit macro-orchidism and macrocephaly. Linkage analysis using markers derived from the X chromosome indicates that the causative gene in this family is located in the proximal long arm of the X chromosome, in the interval Xp11-q21. Maximum lod scores of 2.96 with no recombination were found at three loci in Xq13-q21: DXS1111, DXS566, and DXS986. Recombination was observed with DXS1002 (Xq21.31) and DXS991 (Xp11.2), loci separated by about 30 Mb. Although isolation of the gene in this family will be difficult because of the size of the region involved, the localisation should be helpful in investigating other similar families with XLMR, macrocephaly, and macro-orchidism not attributable to FMR1.

Adolescent↗
PubMed2000

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.

An unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia was observed in a newborn infant. A history of digital anomalies in the father and grandfather lead to the diagnosis of dominantly inherited Greig cephalopolysyndactyly syndrome (GCPS, MIM #175700). Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder. Molecular analysis confirmed the presence of two dominant mutations in the propositus: a GLI3 mutation (E543X), which was present also in the father and grandfather, and a de novo COL2A1 mutation leading to a G973R substitution. Thus, this boy combined the syndactyly-macrocephaly phenotype of Greig cephalosyndactyly syndrome with a severe form of spondyloepiphyseal dysplasia caused by the structural defect in type II collagen. The diagnostic difficulties posed by the combination of two genetic disorders and the contribution of molecular diagnostics are well illustrated by this case.

Abnormalities, Multiple↗
PubMed1976

Benign familial macrocephaly: report of a family and review of the literature.

Five members in two generations of one family were found to have occipitofrontal head circumferences more than 2 SD above the mean. All five had normal intelligence and neurological examinations. Three of the five had ventricular dilatation by A-mode echoencephalography. The inheritance pattern of macrocephaly in this family appears to be autosomal dominant with incomplete penetrance. Possible causes of the macrocephaly in this family are discussed and the reported cases of macrocephaly with normal intelligence and no neurological deficits are reviewed.

Cephalometry↗
PubMedDate not supplied

[In utero macrocephaly as clinical manifestation of glutaric aciduria type I. Report of a novel mutation].

INTRODUCTION: Macrocephaly is a pivotal clinical sign, associated with multiple neurological diseases, particularly neurometabolical ones, such as the glutaric aciduria type I (GA I). This aciduria resulting from the genetical deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH). Is a relatively common cause of acute metabolic brain damage in early childhood. We report on one case of GA I, with early manifestations since fetal period and a novel mutation. CASE REPORT: Our patient was referred due macrocephaly in utero and occipitofrontal head circumference above the 98 percentile for chronologic age during first few months of life, hypotonia and development delay. The metabolic investigations of organic acids in urine and acylcarnitine profile in blood, the brain magnetic resonance and the molecular analyses of the glutaryl-CoA deshidrogenase gene, confirm the diagnosis. The molecular analysis allowed to identify one previously described mutation A293T and a novel mutation IVS5-2 A>G. CONCLUSION: It is important the recognition of in utero macrocephaly as a sign to early diagnosis of glutaric aciduria type I to initiate specific therapy to prevent the encephalopathic crises and minimize brain damage in patients who are already neurologically impaired.

DNA Mutational Analysis↗
PubMed2004

Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.

Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age. We report on a girl with the same pattern of malformations, who has pure trisomy 1 q43: duplication of the region (1) (q43) and the translocation of the terminal region of the other chromosome 1 to the derivative 1, narrowing down the critical region for the characteristic traits of severe developmental delay, macrocephaly and congenital cardiac malformations.

Atrophy↗
PubMed1986

Idiopathic external hydrocephalus: natural history and relationship to benign familial macrocephaly.

External hydrocephalus was identified in 63 infants. The 36 infants in whom external hydrocephalus was idiopathic constitute the study population. The group was homogeneous. Although not all were macrocephalic at birth, the head circumference exceeded the 95th percentile in all cases by 1 year of age, and subsequent head growth was parallel to the 95th percentile. The head computed tomographic scan showed a characteristic picture of a prominent interhemispheric fissure, a collection of subarachnoid fluid over the frontal convexities, and prominent basal cisternae. Mild ventriculomegaly was present in ten cases. These abnormalities resolved after 18 to 24 months of age. No infant required therapy for the condition. Development was normal in 32 infants, suspect in three, and clearly abnormal in only one of the 36 infants. However, of the 32 infants with normal development, 14 were found to be delayed in gross motor development and five in language development at a prior time. There was a family history of macrocephaly in 88% of cases. Several families had a mixture of members with external hydrocephalus and benign familial macrocephaly throughout several generations. These findings suggest that idiopathic external hydrocephalus is a relatively benign, self-limited condition that resolves without treatment and is closely related to benign familial macrocephaly.

Black People↗
PubMed1998

Inherited macrocephaly-hamartoma syndromes.

Recent discoveries in the molecular biology of the phosphatase and tensin homolog (PTEN) locus in the q22-23 region of chromosome 10 prove and/or suggest that several syndromes previously considered to be clinically and genetically distinct entities should actually be unified into a single entity. This conclusion is most secure for the Cowden and "Bannayan-Zonana" phenotypes, but almost certainly should also include the "Riley-Ruvalcaba" and Lhermitte-Duclos phenotypes as well benign familial macrocephaly and external hydrocephalus. The clinical and molecular data supporting this unification are presented along with a proposal for new nomenclature-the PTEN MATCHS (macrocephaly, autosomal dominant, thyroid disease, cancer, hamartomata, skin abnormalities) syndrome-based on the observed clinical abnormalities.

Hamartoma Syndrome, Multiple↗
PubMed1984

Macrocephaly with hamartomas: Bannayan-Zonana syndrome.

Familial macrocephaly with mesodermal hamartomas is described as a distinct syndrome in nine individuals from four families. Constant manifestations include symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth deceleration. Speech and motor delays observed in all the children were usually well compensated by adulthood. Two children had mild mental retardation and seizures which may have been related to intracerebral hemorrhage in one. Mesodermal hamartomas were present in affected persons from all four families, with 60% of individuals manifesting only discrete lipomas and hemangiomas. More serious tumors, including intracerebral hemangiomas, hemangiomatous involvement of the bone, and aggressive lipomas occurred in 40%. Other findings that make it possible to delineate a recognizable syndrome include down-slanting palpebral fissures (66%), a high palate (67%), joint hyperextensibility (55%), pectus excavatum (22%), strabismus or amblyopia (33%), and prolonged drooling (44%). The Bannayan-Zonana syndrome is an autosomal-dominant trait with male predominance of affected individuals.

Adult↗
PubMed2001

Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly. All but one of the cases reported previously had benign clinical courses without showing an increased risk of early infant death. We describe three additional cases with poor clinical outcomes including severe postnatal growth failure, intractable cardiac arrhythmia in two cases, and sudden infant death in two cases. Arrhythmia has not been described previously as one of the symptoms of M-CMCT. Patients with M-CMTC associated with severe postnatal growth failure and arrhythmia may constitute a distinct clinical subtype of M-CMTC with an increased risk of life-threatening episodes or sudden death. Recognizing this clinical subtype of M-CMTC is important to prevent these serious potential complications.

Abnormalities, Multiple↗
PubMed2003

Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?

We report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature.

Abnormalities, Multiple↗