ABSTRACT
Hereditary motor and sensory neuropathy type III, which is also known as Dejerine-Sottas disease, is a severe demyelinating polyneuropathy which presents from birth or infancy, and is sometimes presented as a hypotonic or floppy infant. The disease is inherited autosomal recessively and includes clinical findings of generalized muscle weakness and atrophy, with the greatest severity in distal limb muscles, areflexia, and sensory loss. The disease is characterized histologically by segmental demyelination, remyelination of the peripheral nerves, and onion bulb formations. We experienced a 12-month-old girl with delayed development, frequent respiratory infection and pes cavus. We report this case with a review of related literature.
Subject(s)
Female , Humans , Infant , Atrophy , Demyelinating Diseases , Extremities , Foot Deformities , Hereditary Sensory and Motor Neuropathy , Muscle Weakness , Muscles , Onions , Parturition , Peripheral Nerves , Peripheral Nervous System Diseases , PolyneuropathiesABSTRACT
Systemic lupus erythematosus(SLE) is a multisys-temic disease. Peripheral neuropathy occurs in about 10% of patients with SLE. Chronic inflammatory demyelinating polyneurpathy has been reported rarely in SLE. We experienced a case of chronic inflammatory polyneuropathy in lupus nephritis. 32-year-old housewife presented to chronic progressive muscle weakness and heavy proteinuria. Kidney biopsy showed compatible with lupus nephritis (WHO Class V, membranous nephropathy). Nerve conduction studies showed reduction in conduction velocity and sural nerve biopsy revealed demyeli-nating polyneuropathy. Steroid therapy led to improvement in clinical symptoms and proteinuria.
Subject(s)
Adult , Humans , Biopsy , Kidney , Lupus Nephritis , Muscle Weakness , Nephritis , Neural Conduction , Peripheral Nervous System Diseases , Polyneuropathies , Proteinuria , Sural NerveABSTRACT
In recent years, the sural nerve biopsy has become a commonly performed procedure in the diagnostic work-up of patients with peripheral neuropathy. This paper reviews the diagnostic usefulness and limitations of this procedure. Based on 385 sural nerve biopsies, we found clinically helpful or relevant information in 45% of cases. In 24% of cases, specific diagnoses were obtained, among which vasculitic neuropathy was most common.