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PubMed1997

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphic with a large forehead, short philtrum, and bushy eyebrows. Her younger sister was also born at term with birth weight 2600 g and OFC 34 cm (25th centile). She also developed postnatal macrocephaly with OFC 2 cm above the 97.5th centile and the same mild dysmorphic facial features as her sister. Her development was also characterised by psychomotor delay, autistic features, and epilepsy. In addition, she suffered from coeliac disease. She died unexpectedly at the age of 5 years, probably from an epileptic attack. Necropsy confirmed megalencephaly but no other pathological changes were found. The clinical features in these two sisters do not fit with any known syndrome and may represent a previously unrecognised autosomal recessive disorder.

Abnormalities, Multiple↗

PubMed2001

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.

BACKGROUND: We have previously described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family. The MED observed seems to be part of a larger malformation syndrome, since both craniofacial and central nervous system changes were present in the family. We performed a whole genome scan in this family in order to identify the gene locus for this malformation syndrome. METHODS AND RESULTS: Using homozygosity mapping, we show linkage to the telomeric region of the long arm of chromosome 15. The position of both the disease gene and the principal glycoprotein, chondroitin sulphate proteoglycan (aggrecan, AGC1) on chromosome 15q26, suggested that the aggrecan gene is a candidate for the disease in this family. However, three of the four affected children were heterozygous for a polymorphism at position 831 of the coding sequence of AGC1, providing strong evidence against its involvement. CONCLUSION: We have identified a gene locus for a recessive syndrome of macrocephaly, MED, and distinctive facies in a large Omani family. Aggrecan located on chromosome 15q26, within the critical region determined for this syndrome in this family, was excluded as a candidate gene.

Abnormalities, Multiple↗

PubMed2003

Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem.

Patients with slightly increased excretion of N-acetylaspartic acid in urine, together with macrocephaly, present a dignostic dilemma for Canavan's disease. We describe a 13-year-old male patient with macrocephaly, mild developmental delay, increased signal intensity in the basal ganglia bilaterally, partial cortical blindness, and retinitis pigmentosa. Although the clinical course and magnetic resonance imaging findings did not resemble typical Canavan's disease, N-acetylaspartic acid excretion in the patient's urine was slightly elevated, 99.90 +/- 4.00 microg/mg creatinine, whereas the normal control range was < 83 microg/mg creatinine. Cultured skin fibroblasts from the patient showed no aspartoacylase activity. Cloning of genomic DNA isolated from the patient's fibroblasts showed an intronic mutation, specifically deletion of -2A and -3C at the acceptor site of exon 3 and disrupting the normal splicing of the gene. A second mutation was found in exon 6, 863 A-->G in aspartoacylase complementary DNA, causing a tyrosine-to-cysteine (Y288C) amino acid substitution. Expression of the mutation on exon 6 showed normal aspartoacylase activity. These data suggest that expression of the mutation may help to understand the enzyme defect in a patient with slightly increased N-acetylaspartic acid excretion.

Adolescent↗

PubMed2005

A new method for the treatment of macrocephaly caused by hydrocephalus.

OBJECTIVE: This report will discuss a new surgical technique for treating severe cases of macrocephaly in which the bony architecture is markedly distorted. The procedure relies on several novel surgical tools for its success that have not been previously applied to the treatment of this condition. It utilized the use of contraction osteogenesis devices, resorbable plating systems, and an age- and sex-matched computer-generated skull model, which was derived from a computed tomographic scan as a template for the new calvarium. RESULTS: In the case reported, combined use of these technologies allowed for the complete reconstruction of the calvarium down to the level of the cranial base to produce an appropriately sized skull. The skull model created a template onto which bony fragments could be placed and fixated into a normal shape using the resorbable plating system. The contraction osteogenesis devices then allowed for a slow, safe reduction of the hydrocephalus via a ventriculoperitoneal shunt over a period of several days. On completion of the contraction process, the devices served to fixate the calvarium to the cranial base during the period of bone healing. CONCLUSION: The combination of these modalities represents a unique state-of-the-art method for the correction of severe macrocephaly without the risks of intracranial hemorrhage and provides a useful adjunct to the treatment of hydrocephalus.

Absorbable Implants↗

PubMed1999

Reduction cranioplasty for macrocephaly. Two case reports.

Multi-stage reduction cranioplasty was performed on two children with severe macrocephaly secondary to hydrocephalus. One patient underwent a four-stage operation, and the other underwent a two-stage operation. The postoperative course of both patients was uneventful. Reduction cranioplasty improved quality of life for both patients, and good cosmetic results were achieved. Reduction cranioplasty is effective for the treatment of macrocephaly, and multi-stage surgery can reduce the associated risks.

Agenesis of Corpus Callosum↗

PubMed1999

A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma.

Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149). We anticipate that only when the molecular basis is delineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum.

Abnormalities, Multiple↗

PubMed2000

Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature.

Cutis marmorata telangiectatica congenita (CMTC) is a cutaneous disorder often accompanied by additional anomalies, most commonly segmental overgrowth. Recently a clinically discrete condition has been described comprising CMTC and congenital macrocephaly together with pre- and post-natal macrosomia, segmental overgrowth, central nervous system malformations, connective tissue abnormalities and intellectual handicap. We describe the natural history of macrocephaly-CMTC (M-CMTC) syndrome in a further five patients including the oldest reported patient, a 22 year old. The addition of our five patients brings the total number of reported patients to 28 and now makes it possible to more accurately delineate the phenotype and the frequency of clinical manifestations. We add some further clinical associations to those previously described, including anomalies of the growth of hair and teeth, neuronal migration defects, dislocated hips and stridor. We discuss potential genetic mechanisms that might account for the pleiotropic manifestations of this apparently rare segmental overgrowth disorder.

Abnormalities, Multiple↗

PubMed2000

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

We report on two patients with clinical manifestations consistent with a diagnosis of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC). Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition, the first had cutis marmorata and joint laxity. The second had postaxial polydactyly of hands and feet, cutaneous syndactyly of third and fourth right fingers and of second and third right toes without evident cutis marmorata. A magnetic resonance imaging scan showed cerebral alterations in both patients. The first had bilateral cortical dysplasia with frontal bilateral myelinization defect of corona radiata. The second had mild intertonsillar widening, cavum septi pellucidi, small porencephalic areas in the anterolateral region of cellae, and subsequently developed a nonobstructive hydrocephalus. Reviewing all reported cases we propose a new criterion for M-CMTC diagnosis.

Abnormalities, Multiple↗

PubMed2003

Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation.

Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous disorder. More than one half of the patients with CMTC have additional extra-cutaneous associated congenital anomalies. A subset of patients with CMTC have macrocephaly, the M-CMTC syndrome. This is a report on a patient with the M-CMTC syndrome and a de novo translocation t(2;17)(p11;p13). The etiology and pathology of the M-CMTC syndrome is unknown. Suggestions for the cause for M-CMTC include the occurrence of a new dominant mutation in a single gene, deletion of multiple contiguous genes at a level beyond the resolution of conventional karyotyping and chromosomal mosaicism. This patient did not have chromosomal mosaicism, however he had a translocation. It can be postulated that in the present patient the translocation breakpoints disrupted one or more genes entailing skin lesions but also other features: mental retardation, macrocephaly and facial dysmorphia.

Atrophy↗

PubMed2004

Leukoencephalopathy with macrocephaly and mild clinical course.

The study of the magnetic resonance pattern allowed for identification and description of many genetic disorders belonging to a group of non-specific leukodystrophy e.g. leukoencephalopathy with macrocephaly and mild clinical course (van der Knaap syndrome, MLC megalencephalic leukoencephalopathy with subcortical cysts). This leukodystrophy is characterized by macrocephaly in the first year of life, initially normal development, progressive neurological dysfunction and preservation of mental abilities. The authors describe 3 new cases of vacuolating leukoencephalopathy with megalencephaly. The presented patients fulfill the clinical and neuroimaging criteria of van der Knaap syndrome.

Abnormalities, Multiple↗

PubMed2005

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.

Abnormalities, Multiple↗

PubMed2004

Juvenile polyposis with macrocephaly and mental retardation (? Ruvalcava-Myhre-Smith syndrome)--a case report.

A male child aged one and a half years with a history of rectal bleeding, on examination was found to have severe degree of anaemia with grade -III protein-energy-malnutrition and pneumonia. Colonoscopy revealed features of colonic polyposis. An upper gastro-intestinal endoscopy showed a duodenal polyp while barium meal follow-through did not reveal any polyps in the small intestine. Total colectomy and ileo-rectal anastomosis was done. Following histopathological study, the diagnosis of Juvenile polyposis syndrome was made, a very rare entity and is known to lead to adenocarcinoma of the gastrointestinal tract. In addition the child was found to have macrocephaly and mental retardation. The rarity and importance of the diagnosis of juvenile polyposis syndrome associated with macrocephaly and mental retardation (?Ruvalcava-Myhre-Smith syndrome) prompted the documentation of this case.

Adenomatous Polyposis Coli↗

PubMed1991

[The neuroevolutionary profile of the nursing infant with macrocephaly and benign enlargement of the subarachnoid space].

With the purpose of studying the neuroevolutionary prognosis of children with macrocephaly (percentile 95) and the widening of the subarachnoid space, identified using head CAT scans-five cases were selected from the Pediatric-Neurology Department from the Teaching Regional Hospital of Trujillo-Perú, seen during January 1983 and January 1988 with a follow-up of 1 and 1/2 and 3 years. All of the children showed an abnormal separation of the frontal subarachnoid space, interhemispheric fissure and Silvio incision without ventriculomegaly o a minimal dilation of the ventricular system. Through neurological evaluation and the Denver Development Test, in all cases except one, a characteristic pattern of hypotony and gross motor retardation were seen during the first year of life, which was modified towards normality during the following months until the age of 24 to 40 months. This findings suggest the good prognosis and benign nature of this condition which can be spontaneously resolved and apparently related to benign family macrocephaly.

Brain↗

PubMed1991

[Macrocephaly and dystonic cerebral palsy in a child with type I glutaric aciduria].

In a male infant with macrocephaly and dystonic cerebral palsy glutaric aciduria type I was detected by analysis of urine for organic acids. Glutaric aciduria type I is an inherited metabolic disorder of organic acids due to a defect of glutaryl-CoA-dehydrogenase in the intermediate metabolic step of lysine and tryptophan degradation. In the urine glutaric acid is usually accompanied by 3-hydroxy-glutaric acid in abnormal quantities. The enzyme defect in our patient was proved in cultured fibroblasts. In the cerebral computer tomography marked atrophy of bilateral frontotemporal regions could be demonstrated. The amount of urinary glutarat excretion decreased after protein but especially after lysine and tryptophan restriction in the diet. The administration of carnitine improved carnitine levels in blood and urine. Although the progression of neurological impairment could be stopped, dystonia and dyskinesis remained nearly unaltered. In spite of severe motor retardation, recognition and vocalisation were established. In the two year old patient mental retardation is relatively mild comparing with motor retardation. The administration of 100 or 200 mg Riboflavin/day was stopped, as it did not alter clinical symptoms or excretion of glutarat. Baclofen, an analogue of gamma-amino-butyric acid, was orally given (2 mg/kg/day) and improved dystonia, but did not influence organic aciduria. The neurological manifestations may be due in part to inhibition of neuronal glutamat decarboxylase by glutaric acid with decreased gamma-amino-butyric acid biosynthesis. The characteristic clinical symptoms with macrocephaly and dystonia and the very typical pattern of organic acids in urine are a challenge for rapid diagnosis and therapy.

Amino Acid Metabolism, Inborn Errors↗

PubMed1988

Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema.

A 4 1/2-year-old boy with macrocephaly, pseudopapilledema, lipoangiomatosis, macropenia, and spotted pigmentations of the glans is reported. Lipoid masses were found in the subcutaneous tissue, tonsils, and probably the left lung. Some of these findings are consistent with features already reported by Riley and Smith, later by Bannayan, and recently by Ruvalcaba et al. We propose to unify the features of this syndrome and name it macrocephaly, hamartomas, and papilledema syndrome. The inheritance in our described case seems to be autosomal dominant.

Child, Preschool↗

PubMedDate not supplied

CT and MR in infants with pericerebral collections and macrocephaly: benign enlargement of the subarachnoid spaces versus subdural collections.

PURPOSE: To compare CT and MR in the differentiation of benign enlargement of the subarachnoid spaces and subdural collections in infants with macrocephaly. METHODS: MR was performed in 19 infants with macrocephaly, showing bifrontal enlargement of the subarachnoid spaces on CT. RESULTS: In 11 patients, a single fluid layer could be distinguished on MR of the pericerebral collections, suggesting benign enlargement of the subarachnoid spaces. In eight patients, two separate layers were clearly differentiated, an outer layer that was hyperintense on all sequences and an inner layer with the same intensity as the cerebrospinal fluid. This indicated the presence of subdural collections. These collections were mainly frontal in six and extended over the entire hemisphere in two patients. On CT, these separate lesions were seen only in three patients and missed in three others. In two final patients, CT findings were equivocal with evidence of membrane formation within the hypodense collections. In seven patients with a subdural collection, subdural-external drainage was performed. In three patients, the collection was hemorrhagic. The protein content of the fluid showed a mean of 1381.7 +/- 785.6 mg/dL. The MR and surgical findings of a subdural collection correlated with the absence of a family history of macrocrania, an age under 5 months, and acute clinical signs of vomiting, somnolence, and hypotonia. CONCLUSION: MR appears essential in the differential diagnosis between benign enlargement of the subarachnoid spaces and subdural collections in infants.

Brain Diseases↗

PubMed1998

MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.

We describe a child with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, and cutis marmorata telangiectasia congenita of the trunk, and visceral and subcutaneous cavernous hemangiomas. The megalencephaly is accompanied by MRI findings of CNS dysgenesis with protrusion of the cerebellar tonsils through the foramen magnum (Chiari I), lumbar syrinx, and hydrops of the optic nerves. The report of this additional patient further confirms the newly described macrocephaly-cutis marmorata telangiectatica congenita as a distinct clinical phenotype.

Abnormalities, Multiple↗

PubMed1998

Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia?

Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia?: In this report, we describe a 30-year-old female with mental retardation, spastic paresis, epilepsy, macrocephaly and distinct craniofacial appearance. Probably, she suffers from the same condition as the two sibs described by Fryns et al., in 1994 (2).

Adult↗