Clinical and pathological findings in an unusual infantile motor neurone disease

Abstract

SUMMARY An unusual motor neurone disease with a characteristic denervation atrophy of muscle is described in an infant. The striking change is a vacuolization of the cytoplasm of the affected ganglion cells in many motor nuclei of spinal cord and brain-stem, and in the claustrum. To our knowledge this disease has not yet been described in man and similar pathological changes have been found only in a certain strain of mice ('wobbler').This paper presents the clinical and pathological findings in an infant with an unusual form of motor neurone disease which appeared to be present at birth. Morphologically, the disease is characterized primarily by chromatolysis and vacuolization of nerve cells of the motor system in spinal cord and brain-stem. The changes seem to be similar to those seen by Duchen and Strich (1968) in a hereditary motor neurone disease in a strain of mice 'wobbler', but to our knowledge such changes have not yet been described in man. CASE REPORTThis was the first child, a boy, of young and healthy parents of Egyptian extraction. There were no known inter-marriages in the family. Pregnancy and delivery were normal. Birth weight was 2,500 g without evidence of prematurity. The mother noted soon after delivery that the right hand of the child was floppy.The boy was admitted to hospital at the age of 7 months in order to investigate the cause for his floppy hand. He was not able to sit up. His weight was 5,600 g. The right hand was flaccid and showed some outward rotation. The left hand was somewhat spastic. A subluxation of the left hip joint was found. The electroencephalogram (EEG) was normal. The electromyogram (EMG) (right extensor and flexor carpi muscles) showed an uncharacteristic abnormality, possibly caused by a neurogenic muscular lesion; a primary myogenic lesion could be ruled out. Radiographs of the pelvis showed that the ossification centre on the left side was small, and the acetabulum flat, findings which are compatible with a dysplasia on the left side. The right hand showed 'retardation' in bone age. Skull and thorax were normal. LABORATORY FINDINGS The plasma contained phosphorus5-1 and 5-8 mg/100ml.;alkaline phosphatase 8 and 6 Bodanski units; calcium 9-5 mg/100 ml.; haemoglobin 8-5 g/100 ml.; leucocytes 9100/c. mm; normal differential count; haematocrit 30%; anisomicrocytosis. Plasma iron was 210 and 160 pg/100 ml.; iron binding capacity 170 and 275; total iron binding capacity 380 and 435; iron saturation 55 and 37%. A Sabin-Feldman test for toxoplasmosis was negative; PPD (Mantoux) negative. Cerebrospinal fluid obtained by lumbar puncture showed: Pandy test negative; protein 49 mg/100 ml.; NaCl 660 mg/ 100 ml.; glucose 65 mg/100 ml.; no cells; culture negative.During his stay in hospital he suffered from bronchopneumonia; his weight dropped to 5,300 g.The clinical diagnoses at discharge included cerebral palsy, arthrogryposis, ? Erb's palsy.The second admission was for an upper respiratory tract infection at the age of 9 months. His weight was 5,600 gin. He neither sat nor st...

Second Case of an Infantile Motor Neuron Disease

“…hypoglossus and ambiguus). The changes include a vacuolization of the perikaryon of some cells and peripheral chromatolysis in others or The pathological changes in the first case published [2] correspond topographically to those seen here but were even more pronounced, as there was vacuolization of more ganglion cells and involvement also of several motor nuclei of cranial nerves.…”

“…A variety of path ological conditions can lead to vacuolization. A detailed discussion of these has been presented previously [2], The vacuolization was then thought to occur following the chromatolysis but reexamination revealed, as in the present case, cells with well-preserved Nissl substance with be ginning appearance of small vacuoles.…”

Flail arm syndrome with cytoplasmic vacuoles in remaining anterior horn motor neurons: A peculiar variant of amyotrophic lateral sclerosis

“…In mSOD1 mice, it occurs in the early stages of disease due to mitochondrial inner compartment changes . Conversely, vacuolation in anterior horn cells is rarely observed in human motor neuron disease, and it does not occur in patients with a mutated version of SOD1 . There is one report of cytoplasmic vacuoles in remaining anterior horn cells in a rare case of non‐SOD1‐linked familial ALS, and it was also described in a patient with an unusual infantile motor neuron disease .…”