Neuropediatrics 2012; 43 - PS11_06
DOI: 10.1055/s-0032-1307075

Microcephaly – Capillary Malformation Syndrome: A new syndrome with severe epilepsy – the first german patient

T Polster 1, M Möllers 2, C Wegendt 2, D Morris-Rosendahl 3
  • 1Epilepsie-Zentrum Bethel, Krankenhaus Mara Prächirurgische Diagnostik für Kinder & Jugendliche, Bielefeld, Germany
  • 2Evangelisches Krankenhaus Bielefeld, Institut für diagnostische Radiologie Kinderradiologie, Bielefeld, Germany
  • 3Universitätsklinikum Freiburg, Institut für Humangenetik, Freiburg, Germany

Microcephaly is a common finding in children with intractable epilepsy and severe developmental delay. Patients with severe microcephaly often have a reduced number of gyri, a pattern that has been designated as microcephaly with simplified gyral pattern. The association with multiple patchy capillary malformations is an uncommon finding, that leads to the identification of a recently described, probably autosomal recessive syndrome.

We describe a boy, the first child of non-consanguineous german parents, who was delivered by cesarean section due to pathological CTG at 34 weeks. Oligohydramnios had been noted prenatally, a scalp deformity with microcephaly was noted after delivery, as well as cutaneous macules. Seizures with tonic or clonic semiology and automatisms started at the first day of life and remained pharmacoresistant ever since. His eeg showed multifocal spikes, focal seizure patterns and a sinusoidal alpha activity, often seen in children with severe malformations of cortical development. After initial tube feeding he was breastfed and showed continuous weight gain. At the age of 1.5 years he has no appreciable psychomotor development, no eye contact, no vocalization and a spastic quadriparesis with axial hypotonia. His head is severely dysmorphic with disproportionate small cranium and low-sloping forehead, broad nasal bridge, hypertelorism and shallow philtrum. Toes are short and partly overlapping, the great toes have dysplastic nails. The scrotum is hypoplastic with small testes. Head circumference is 35cm (P), length 70cm (P), weight 8200g (P).

Seizure severity is acceptable on a combination therapy with Phenobarbital (30mg/d) and Levetiracetam 1100mg/d.

Diagnostic workup included an analysis of microcephaly-associated genes and RASA-1, a gene associated with multiple capillary malformations. No abnormality has been found.

In 2011, 6 children have been described by three different groups, who were affected by exactly the same association. The pattern has been described as Microcephaly – Capillary Malformation Syndrome.

Microcephaly - simplified gyral pattern - capillary malformations - epilepsy - developmental delay