A newborn male presented with severe respiratory insufficiency, generalized muscle weakness, and lactic acidemia. Immediately after admission, he was placed on a respirator because of respiratory arrest. He deteriorated rapidly and died 75 hours after birth. There was notable variation in fiber size and an increased number of type 2C fibers in the quadriceps femoris muscle obtained at autopsy; however, no ragged-red fibers were observed with modified Gomori trichrome staining. Markedly decreased cytochrome c oxidase activity was demonstrated in skeletal muscle by biochemical and histochemical studies, while cardiac muscle demonstrated normal cytochrome c oxidase activity. Mitochondrial myopathy should be considered in the differential diagnosis of patients with neonatal respiratory distress syndrome.

Cytochrome-c Oxidase Deficiency↗

PubMedDate not supplied

Chronic polyneuropathy and ulcerative colitis.

A case of chronic polyneuropathy associated with ulcerative colitis was reported. The patient was 57-year-old man who developed sensory disturbances and muscle weakness in four extremities along with the digestive symptoms of ulcerative colitis. Neurological examination revealed that sensory impairment in all modalities, muscular atrophy and weakness in the distal portions of all extremities and decreased or absent muscle stretch reflexes. Laboratory data included sedimentation rate 119mm/hour, CRP 4+, increased IgG and IgM. Lumbar puncture revealed normal CSF pressures, increased protein and IgG content with almost normal cell count. Nerve conduction velocity was delayed dominantly in sensory nerves. Sural nerve biopsy demonstrated degeneration of myelin sheath and decreased number of large fibers. Teased nerve study showed shortened internodal distances with myelin ovoids. These data together with the clinical course of this patient suggested that this peripheral neuropathy might be resulted from the common pathogenesis for ulcerative colitis which is considered as autoimmune disease.

Colitis, Ulcerative↗

PubMedDate not supplied

Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction.

A case of partial sphingomylinase deficiency with supranuclear vertical ophthalmoplegia, perceptive hearing loss and renal failure is reported. Extensive studies revealed sea-blue histiocytosis in bone marrow, delayed peripheral nerve conduction velocity, selective IgG and IgM deficiency, mild hepatosplenomegaly and testicular hypotrophy and retention. Although renal failure, perceptive deafness, immunoglobulin deficiency and testicular malformation are rare conditions in sphingomyelinase deficiency, this case mimicked to lipidosis reported by Neville. The association of congenital malformation and uremia might accentuate the symptoms.

Adolescent↗