A novel chronic childhood sensory predominant neuropathy.

ABSTRACT

Chronic childhood neuropathies are predominantly hereditary in origin. Specific distinct clinical entities have been described, however, occasionally children with an unusual clinical phenotype are encountered in practice. We describe four children (3 males, 1 female) of Lebanese Moslem descent all sharing a common great-great-grandparent pairing with such a novel clinical spectrum. The three males were first cousins, each the product of a different parental consanguineous (i.e., parents second cousins) mating, whereas the female was a third cousin to each of the males whose parents were also second cousins. Each child presented early in life with developmental delay with associated hypotonia and areflexia. All had a sensorineural hearing loss documented and two of the patients were dysmorphic in facial appearance. Nerve conduction studies highlighted a sensory axonal neuropathy and sural nerve biopsy undertaken in two patients confirmed an axonal neuropathy. Detailed genetic and metabolic testing was negative. Followed into later childhood, each child continued to manifest motoric impairment, unsteadiness, areflexia, and cognitive disability. These children appear to provide evidence for a novel autosomal recessive inherited chronic predominantly sensory neuropathy that shares core clinical features with observed variability in associated symptoms.