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Unique Hereditary Serisory and Autonomic Neuropathy With Growth Hormone Deficiency

Retina Associates, Schepens Eye Research Institute, Medical Unit, Massachusetts Eye and Ear Infirmary

Anthony H. Jackson, MD

Tufts University School of Medicine Boston, Pediatric Neurology, Section Department of Pediatrics, Baystate Medical Center, Springfield, MA

Roland D. Eavey, MD

Department of Otology and Laryngology, Massachusetts Eye and Ear Infirmary

Richard M. Robb, MD

Department of Ophthalmology, Children's Hospital, Harvard Medical School

The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance. (J Child Neurol 1993;8:271-276).

Journal of Child Neurology, Vol. 8, No. 3, 271-276 (1993)
DOI: 10.1177/088307389300800312


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