Autopsy Case of the Mutation in a Patient with Signs of Mitochondrial Dysfunction

Overview

Journal Neurol Genet

Date 2017 Aug 15

PMID 28804760

Citations 8

Authors

Hideaki Nishihara

Masatoshi Omoto

Masaki Takao

Yujiro Higuchi

Michiaki Koga

Motoharu Kawai

Hiroo Kawano

Eiji Ikeda

Hiroshi Takashima

Takashi Kanda

Affiliations

Soon will be listed here.

Abstract

Objective: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the gene.

Methods: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with mutations.

Results: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60. Pectus excavatum, long fingers and toes, and pes cavus were revealed by physical examination. Her IQ score was 44. Neurologic examination revealed ophthalmoplegia, optic atrophy, dysphagia, distal dominant muscle weakness and atrophy, hyperreflexia at patellar tendon reflex, hyporeflexia at Achilles tendon reflex, and extensor plantar reflexes. At age 60, she died of pneumonia. Lactate levels were elevated in the patient's serum and CSF. T2-weighted brain MRI showed symmetrical hyperintense brainstem lesions. At autopsy, axial sections exposed symmetrical cyst formation with brownish lesions in the upper spinal cord, ventral medulla, pons, dorsal midbrain, and medial hypothalamus. Microscopic analysis of these areas demonstrated mild gliosis with rarefaction. Cell bodies in the choroid plexuses were eosinophilic and swollen. Electron microscopic examination revealed that these cells contained numerous abnormal mitochondria. Whole-exome sequencing revealed the 2-base deletion in .

Conclusions: We report an autopsy case of the mutation, and findings suggest that mitochondrial dysfunction may underlie the unique clinical presentations.

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