Microcephaly-capillary malformation syndrome: Delineation of a new syndrome

Case Report: An association of capillary malformations with hypoplasia of distal phalanges, severe malformation of cortical development with progressive microcephaly, drug-resistant epilepsy, and severe developmental delay was newly described in 2011. Five patients from four different families have been reported, suggesting an autosomal-recessive inheritance. The constellation was described as microcephaly-capillary malformation syndrome. A consortium has been established to elucidate the molecular genetic cause of the disorder. We describe the first German patient.

First child of nonconsanguineous parents delivered by cesarean section due to pathological CTG at 34 weeks. Oligohydramnios and breech position had been noted prenatally. Severe microcephaly (OFC 29 cm) was noted after delivery as well as cutaneous macules. Ultrasound showed a vascular abnormality of the liver (< 1 mL) and bilateral hip dysplasia, hypertonic-hypokinetic pattern of motor activity, hyperexcitability after tactile stimuli, bilateral tonic and clonic seizures, EEG with sinusoidal α-activity, bilateral irregular sharp waves and focal seizure patterns, MRI with microencephaly with relatively preserved cerebellum, simplified gyral pattern, and small hippocampi.

At the age of 2 years, there is progressive microcephaly (OFC 35 cm) with dysmorphic features: disproportionately small cranium and low-sloping forehead, broad nasal bridge, hypertelorism, and shallow philtrum. Toes are short and partly overlapping; the big toes have dysplastic nails. The scrotum is hypoplastic with small testes. The child has spastic quadriparesis with axial hypotonia without appreciable psychomotor development, no eye contact, no vocalization.