Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.
We report on a macrosomic newborn girl with albinism, a black lock at the right temporo-occipital region, and retinal depigmentation. Bilateral deafness was confirmed by brainstem auditory-evoked potentials. In addition, the infant had a severe defect of intestinal innervation. Biopsy showed aganglionosis of the large intestine, and total absence of neurocytes and nerve fibers in the small intestine, indicating a total lack of sympathetic and parasympathetic innervation. The infant died of intestinal dysfunction at 5 weeks. She was the 14th child of consanguineous Kurdish parents. Four sibs of our patient had the same syndrome and died a few days after birth. The other 9 sibs are well, with an unremarkable phenotype. A syndrome of albinism, black lock, deafness, and a total lack of intestinal neural innervation has not yet been reported. It represents a new neural crest syndrome with autosomal-recessive inheritance.
Gross
A
A
Department of Neonatology, Klinikum Rudolf Virchow, Berlin, Germany.
Kunze
J
J
Maier
R F
RF
Stoltenburg-Didinger
G
G
Grimmer
I
I
Obladen
M
M
D000417:Albinism; D003241:Consanguinity; D003638:Deafness; D017809:Fatal Outcome; D005260:Female; D006200:Hair Color; D006627:Hirschsprung Disease; D006801:Humans; D007231:Infant, Newborn; D007421:Intestine, Small / Q000294:innervation*; D010375:Pedigree; D013577:Syndrome