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PubMed2004

Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a recently described multiple congenital anomaly/mental retardation (MCA/MR) syndrome of unknown cause. This condition is easily recognizable at birth in children with macrocephaly, cutis marmorata, face and/or body segmental overgrowth, toe syndactyly, midface capillary malformation, and hemimegalencephaly. Cutis marmorata may be absent in some cases. Most patients are developmentally delayed. We describe seven new patients, including two with unusual cerebral manifestations and severe outcome. One of two had a complex congenital heart defect (CHD) and died in the neonatal period. Brain magnetic resonance imaging (MRI) showed generalized cortical dysplasia. The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy.

Abnormalities, Multiple↗

PubMed2004

Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.

We report on six additional patients with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC; MIM 602501) and review the literature. This syndrome is a multiple congenital anomalies/mental retardation and overgrowth disorder comprising macrocephaly, cutis marmorata, vascular marks of lip and/or philtrum, syndactyly, hemihypertrophy, CNS anomalies, and developmental delay. Based on the findings in our 6 patients and on 69 patients previously reported we listed the very frequent (observed in >75%), frequent (25-75%), and less frequent (>25%) components of the syndrome.

Abnormalities, Multiple↗

PubMed1997

New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.

Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of the lesions showed extensive small-vessel proliferation and gliosis. A distinct deficiency of complex I of mitochondrial respiratory chain was established in cultured fibroblasts, skeletal muscle, and heart muscle. Specific lack of complex I protein was demonstrated by two-dimensional gel electrophoresis.

Cardiomyopathies↗

PubMed2005

Macrocephaly-cutis marmorata telangiectatica congenita syndrome--prenatal signs in ultrasonography.

A new case of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) syndrome is described. The patient presented typical congenital findings in utero, although the syndrome was diagnosed postnatally. The M-CMTC syndrome should be considered when there is a marked fetal overgrowth and progressive macrocephaly with no indications of maternal hyperglycemia or fetal hyperinsulinism. Our patient also had unilateral pleural effusion, curved femur and frontal bossing.

Abnormalities, Multiple↗

PubMed1994

Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1.

Two siblings presented with macrocephaly, psychomotor delay, and progressive dystonia. The initial diagnosis was of hydrocephalus and bilateral temporal cerebrospinal fluid collections. Following ventriculoperitoneal shunting, the patients showed only modest neurological improvement. Metabolic investigations performed later in the course of the disease disclosed increased levels of glutaric acid in the urine and decreased levels of serum carnitine, which were confirmatory of glutaric aciduria type 1. The association of macrocephaly, dystonia, and bilateral temporal arachnoid cysts, shown either by computed tomography or magnetic resonance imaging, seems to be diagnostic of glutaric aciduria type 1. The authors report these two cases as they think they might be of interest to neurosurgeons.

Arachnoid Cysts↗

PubMed1999

Macrocephaly and dilated Virchow-Robin spaces in childhood.

We report two children who presented with progressive macrocephaly and dilated Virchow-Robin spaces on magnetic resonance imaging. Follow-ups of 1-4 years and 5-9 years, respectively, showed normal neuro-developmental progress. We suggest that dilated Virchow-Robin spaces in patients with macrocephaly is a benign association.

Abnormalities, Multiple↗

PubMed2006

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. Mutations of OFD1 have been associated with oral-facial-digital type 1 syndrome (OFD1S) that is characterized by X-chromosomal dominant inheritance and lethality in males. In contrast, the carrier females of our family were clinically inconspicuous, and the affected males suffered from severe mental retardation, recurrent respiratory tract infections and macrocephaly. All but one of the affected males died from respiratory problems in infancy; and impaired ciliary motility was confirmed in the index patient by high-speed video microscopy examination of nasal epithelium. This family broadens the phenotypic spectrum of OFD1 mutations in an unexpected way and sheds light on the complexity of the underlying disease mechanisms.

Alleles↗

PubMed1989

In utero diagnosis of benign fetal macrocephaly.

Benign familial macrocephaly is an autosomal dominant disorder associated with a large absolute circumference of the head. In this disorder serial growth demonstrates a proportional rather than an excessive rate of growth. To date, we are not aware of any published case reports that confirm the diagnosis prenatally. We report a case of benign familial macrocephaly diagnosed in utero by ultrasonographic evaluation. This case report points out the necessity of combining appropriate family history and physical examination in cases of prenatally detected anomalies.

Adult↗

PubMedDate not supplied

A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma. At 17th day of his life he suddenly developed cardiorespiratory arrest and died.

Abnormalities, Multiple↗

PubMed2004

[Macrocephaly and multiple hamartoma: a very variable entity].

UNLABELLED: The Bannayan-Zonana is a dominant autosomal polymalformation syndrome. CASE REPORT: We report a case of Bannayan-Zonana syndrome in a 3-year-old girl, who presented with macrocephaly and a cervical lipoma. The patient's mother had neurofibromatosis I. No mutation in the PTEN gene was found. The slowly progressive lipoma increased with age and the surgical reduction was necessary. COMMENTARIES: Macrocephaly is constant in different syndromes characterized with multiple hamartomas. The multiple hamartomas syndrome represents an entity with a high variability of expression.

Child, Preschool↗

PubMed1975

Macrocephaly in association with unusual cutaneous angiomatosis.

Ten patients are presented who demonstrate a newly recognized association of macrocephaly with unusual angiomatosis and limb asymmetry in three somewhat similar cutaneous vascular disorders: Klippel-Trenaunay-Weber syndrome, the combination of Sturge-Weber anomaly with Klippel-Trenaunay-Weber syndrome, and cutis marmorata telangiectatica congenita. The etiology of the macrocephaly in patients with these conditions is unknown. The majority (seven of ten) of these children have no evidence of central nervous system dysfunction.

Angiomatosis↗

PubMed2002

Macrocephaly and epidural involvement of T-cell acute lymphoblastic leukemia.

We describe a 2-year-old female who presented with macrocephaly and anemia. Magnetic resonance imaging revealed a diffusely enhancing epidural lesion over the sagittal frontoparietal region. Bone marrow examination confirmed the diagnosis of T-cell acute lymphoblastic leukemia. Induction chemotherapy led to hematologic remission and neuroimaging resolution of the mass. This report suggested macrocephaly could be a rare and early manifestation of leukemia in children.

Anemia↗

PubMedDate not supplied

[L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly].

We report on a 9-year-old girl who was referred to our department because of increasing macrocephaly and school problems. The neurological examination disclosed mild cerebellar dysfunction and positive pyramidal tract signs. An MRI of the brain revealed extensive signal alterations of the white matter. Biochemical investigations established the diagnosis of L-2-hydroxyglutaric aciduria which has to be kept in mind as a rare cause of macrocephaly.

Adolescent↗

PubMed1985

Cerebrospinal fluid dynamics and cerebrospinal fluid infusion in children. Part II: Clinical application of lumbar cerebrospinal fluid infusion in children with macrocephaly and normal growth rate of the head circumference.

In fourteen children with macrocephaly and a normal growth rate of the head circumference, the CSF dynamics were studied by means of the lumbar CSF infusion test with constant flow. We discuss the significance of the outflow resistance together with the advantage of the Pressure Volume Index, which constitute the major parameters of the test. On the basis of computed tomography, we were able to show a differentiation in macrocephaly between megalencephaly, so-called external ventricular obstructive hydrocephalus and communicating hydrocephalus. We were not able to establish a disturbance of the CSF dynamics in megalencephaly and external ventricular obstructive hydrocephalus. In communicating hydrocephalus, CSF absorption was normal, whilst the Pressure Volume Index was elevated. As far as we have been able to ascertain, we are the first in the field to point to a positive correlation between ventricular size and Pressure Volume Index in children with moderately enlarged CSF-spaces.

Adolescent↗

PubMed1989

Macrocephalies--a differentiated approach.

We present a clinical study of 43 macrocephalic children with a normal rate of headgrowth. The aims of the study were an evaluation of the usual criteria of macrocephaly and the drafting of a differentiated approach to the investigation of macrocephalics. Firstly, the value of head measurement in evaluating intracranial volume was assessed. As a golden standard for the intracranial volume the volume obtained by means of a CT-scan technique was used. It appeared that only about 30% of the variance of the intracranial volume was determined by the occipito-frontal circumference (OFC). A better estimation of the intracranial volume of the macrocephalic children was obtained by means of the "Utrecht Head Measure", the product of OFC-squared and the head height. Based on length measurements taken from CT-scans, the macrocephalic children were divided into three subgroups: megalencephaly (n = 15), extraventricular obstructive hydrocephalus (n = 5) and communicating hydrocephalus (n = 23). The clinical pictures of the megalencephalic and hydrocephalic children appeared to differ substantially. The megalencephalic subgroup had less neurological symptoms and physical abnormalities and showed a higher intelligence or a more advanced development or both. On the basis of our experience and theoretical considerations guidelines were developed for the assessment of patients with macrocephaly and a normal rate of head growth with a differentiated approach for megalencephalic and hydrocephalic patients.

Brain↗

PubMed1997

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

We describe nine children with a similar pattern of features including macrocephaly and cutis marmorata telangiectatica congenita. All were large at birth and had a distinctive capillary haemangioma involving the philtrum and upper lip. The seven who survived all developed hydrocephalus and had developmental delay. Six developed body asymmetry and three had internal arteriovenous malformations. Syndactyly of the second and third toes and/or the third and fourth fingers or toes was commonly seen. All of the cases were sporadic. This condition is easily recognizable and should be considered in the differential diagnosis of patients presenting with overgrowth and macrocephaly.

Abnormalities, Multiple↗

PubMed2002

Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma.

We describe a boy presenting with macrosomy, body asymmetry, cutis marmorata and tall stature who developed a retinoblastoma. Although he does not have macrocephaly, his clinical picture is compatible with the diagnosis of Macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC). Interestingly, retinoblastoma is not generally associated with overgrowth syndromes, and its occurrence in this patient suggests that M-CMTC is also a tumour-prone syndrome.

Abnormalities, Multiple↗

PubMed1988

Intracranial spaces in childhood macrocephaly: comparison of length measurements and volume calculations.

CT scanning was done to calculate the volume of intracranial spaces in children with the purpose of developing a reliable method of differentiating the various causes of macrocephaly. The technique has been applied to the CT scans of 60 apparently normal children, and the resulting graphs show the normal relationship between intracranial volumes and age from birth to 15 years. The measurements for 25 children with macrocephaly and normal rate of growth of head circumference were then compared with the reference values. It was possible to make accurate differentiations between megalencephaly, extraventricular hydrocephalus and communicating hydrocephalus. The advantage of this technique in relation to length measurements on CT scans is discussed. The authors advocate the estimation of the product of head circumference and head height as a much more reliable indication of normal and deviant head-size than head circumference alone.

Brain↗