Peripheral neuropathy in metachromatich leucodystrophy.

Abstract

Involvement of the peripheral nerves in metachromatic leucodystrophy has received increasing interest in recent years (Brain and Greenfield, 1950;Norman, Urich, and Tingey, 1960). Though definite pathological findings have been made there have been few clinical observations of peripheral neuropathy in this condition. CASE REPORTThis patient was born to unrelated parents without any family history of neurological disease. The birth history was without incident. She had normal milestones until the age of 1j years, when she was noticed to be unsteady on her legs, and within the course of a few weeks was unable to support herself unaided. There was a history of recurrent attacks of infection of the upper respiratory tract. On examination at the age of 18 months she was mentally alert, there was a left sixth-nerve palsy, the arms were normal but the legs were hypnotic, with weakness of both proximal and distal muscles, and the reflexes were depressed. A lumbar puncture examination at the time showed cerebrospinal fluid (C.S.F.) protein 180 mg./100 ml. without cells, and a negative Lange curve. In view of these clinical and biochemical findings a diagnosis of postinfective peripheral neuritis was made.Electrophysiological studies were done at this stage (Dr. D. Taverner). The conduction in the right lateral popliteal nerve was 15 metres per second. Electromyographic studies were done on the right anterior tibial and left extensor digitorum brevis muscles. There was discrete motor activity with spontaneous fibrillation potentials in both those muscles, confirming denervation in the muscles of the legs.Prednisone 5 mg. b.d. was given, and in the following three weeks she made a definite but slight improvement, and at the time of her discharge from hospital could walk with support. While at home prednisone was increased to 30 mg. daily, but her neurological condition progressed. She could walk only with the aid of the furniture, and after six months from the onset of the illness she had become helpless and unable to stand. There was no change in the sixth nerve palsy. At this stage her hands were unsteady and she had a coarse tremor while feeding herself. She was mentally alert and would play with her brother.On readmission, when the duration of her illness was 10 months, she was found to be mentally alert but very irritable. Sucking and grasp reflexes were absent. There was some intention tremor, and arm movements were clumsy. She could not support herself, and her legs were found for the first time to be spastic; the tendon jerks were normal in the arms, but the knee jerks were pathologically brisk. The abdominal reflexes were present, and the right plantar response was equivocal. Lack of co-operation precluded a sensory examination. During this admission she had a major epileptic attack. DISCUSSIONThe neurological manifestations of metachromatic leucodystrophy are mainly due to involvement of the central nervous system, and clinical involvement of the peripheral nerves has been largely overlooked. This is apparent ...

Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy.

“…The same finding is described more recently in cerebral biopsies as a diagnostic confirmation of this disease (Greenfield, 1933;Aziz and Pearce, 1968). The metachromatic material is also deposited in other tissues and organs such as salivary glands, ovaries, pancreas, and gallbladder; the accumulation in the biliary ducts might account for the excluded gall bladder shown in our patient.…”

“…The electrophysiological study is usually the first test to confirm the polyneuritis, and is therefore of great orientation value. The marked reduction of motor nerve conduction velocity, commonly by more than 5000, has been described by Fullerton (1963Fullerton ( , 1964, Yudell et al (1967), Aziz and Pearce (1968), Gamstorp (1968Gamstorp ( , 1970, and De Silva and Pearce (1973). Our results show figures of motor nerve conduction velocity that are equivalent to about 3000 of the average values in normal children of the same age, the distal latency was more than doubled.…”

“…Peri-pheral neuropathy is an uncommon condition in infancy and, as sensory testing in infants rarely provides any conclusive data, diagnosis of polyneuropathy becomes very difficult (Aziz and Pearce, 1968). The measurement of nerve conduction velocity is simple and does not require cooperation on the patient's part, so it is an excellent method for the detection of peripheral nerve pathology.…”

“…Polyneuropathy in metachromatic leucodystrophy, even at an early stage is now familiar and in recent years has received increasing interest (Yudell et al, 1967;Aziz and Pearce, 1968;Gamstorp, 1968Gamstorp, , 1970Tasker and Chutorian, 1969;De Silva and Pearce, 1973). The electrophysiological study is usually the first test to confirm the polyneuritis, and is therefore of great orientation value.…”

“…The electrophysiological alterations are paralleled by the structural changes consisting of segmental demyelination observed in nerve biopsy (Dayan, 1967;Aziz and Pearce, 1968). Since the first findings of metachromatic substance in the nerve (Thieffry and Lyon, 1959), sural nerve biopsy has proved to be the most appropriate method for the diagnosis of metachromatic (Accepted 14 August 1974.…”