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Intestinal dysmotility and neurogenic bladder have been described as part of two autosomal-recessive mitochondrial disorders assumed to be due to a defect in communication between the nuclear and mitochondrial genomes: myoneurogastrointestinal encephalopathy (MNGIE) and diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome). Partial cytochrome c oxidase deficiency has been described in both. We describe three Ashkenazi Jewish siblings with progressive intestinal dysmotility, neurogenic bladder, and autonomic manifestations but no central nervous system involvement. Cytochrome c oxidase deficiency was demonstrated in peripheral and multiple intestinal muscle biopsies. Mitochondrial DNA analysis of an intestinal biopsy of patient 1 showed heteroplasmy consisting of a normal 16.5-kb band and an approximately 28-kb band, suggestive of a duplication. Mitochondrial DNA analysis of a muscle biopsy of patient 2 showed multiple deletions, mainly 10- and 11-kb bands. We suggest that this unique combination of intestinal pseudo-obstruction and neurogenic bladder could comprise a new autosomal-recessive mitochondrial disorder.

We present a case of a nearly 3-year-old girl who was admitted to hospital due to severe hypernatremia (196 mmol/l). Her medical history included central hypothyreosis and growth hormone deficiency. Rehydration and normalization of sodium was achieved according to guidelines. On the fourth day of hospitalization, the patient developed tremor, ataxia, and rigor. Cranial magnetic resonance imaging (cMRI) was performed and (mis)interpreted for meningoencephalitis, with corresponding diagnostic and therapeutic implications. The patient had extrapontine myelinolysis. The child recovered completely after hospitalization for nearly 2 weeks.