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A 32‐year‐old woman had a medical history of a hypoglycemic attack. One year later, she had a second hypoglycemic attack. She could move her limbs after an intravenous glucose injection, but communication difficulty and cerebellar ataxia remained. We found brain MRI abnormalities in the bilateral middle cerebellar peduncles and internal capsule. The patient was diagnosed with insulinoma. High‐intensity MRI fluid‐attenuated inversion recovery at the bilateral middle cerebellar peduncles remained on the 45th day, but it disappeared after 1.7 years from the second attack. Consciousness improved, but cerebellar ataxia remained. The patient was able to walk without a cane following rehabilitation. There are few case reports of MRI abnormalities in the bilateral middle cerebellar peduncles in hypoglycemic encephalopathy. This case showed that infratentorial lesions, such as those in the middle cerebellar peduncles, might be observed on MRI in hypoglycemic encephalopathy that MRI abnormalities might disappear at long‐term follow‐up.

Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and peripheral neuropathy; however, the features are unclear. A 44-year-old woman was clinically diagnosed with Charcot-Marie-Tooth disease at 3 years of age due to gait disturbance. Her activity and voluntary speech gradually decreased in her 40s. Cognitive function was evaluated and brain imaging tests were performed. The Mini-Mental State Examination and frontal assessment battery scores were 25/30 and 10/18, respectively, suggesting higher brain dysfunction. Peripheral nerve conduction studies revealed axonal impairments. Brain computed tomography showed significant calcification. Magnetic resonance imaging revealed an increased gadolinium contrast-enhanced signal in the white matter, suggesting demyelination of the central nervous system (CNS) due to LCFAs. The diagnosis of MTP deficiency was confirmed through genetic examination. Administration of L-carnitine and a medium-chain fatty triglyceride diet was initiated, and the progression of higher brain dysfunction was retarded within 1 year. This patient's presentation was suggestive of CNS demyelination. The presence of brain calcification, higher brain dysfunction, or gadolinium enhancement in the white matter in patients with peripheral neuropathy may be suggestive of MTP deficiency.

A 36-year-old man experienced severely impaired consciousness twice after drinking because of hyperammonemia. No abnormal blood tests were found other than ammonia levels. However, magnetic resonance imaging showed atrophy of the brain parenchyma. One the second occasion, the patient suffered severe impairment of consciousness, and because of seizures and glossoptosis, mechanical ventilation was started. Urea cycle disorders (UCDs) were assumed to be involved. Genetic testing revealed a monoallelic mutation of the carbamoyl phosphate synthase 1 gene. When transient hyperammonemia of unknown cause occurs repeatedly in adults, an active investigation for UCDs should be conducted.

Background: Spinal muscular atrophy (SMA) is a genetic disorder caused by the progressive loss of lower motor neurons. Myasthenia gravis (MG) is an acquired, autoimmune, neuromuscular junction disorder. We encountered a rare case of coexisting SMA and MG.Case Presentation: A man was diagnosed with SMA type III when aged in his 20s. At the age 71 years, he started experiencing difficulty flexing his elbow, with dysphagia appearing within a few months. He had difficulty eating and was referred to our hospital to undergo gastrostomy. Other diseases that could cause dysphagia were investigated.Tests for acetylcholine receptor antibody and edrophonium showed positive results, based on which he was diagnosed with MG. A genetic test was carried out that reconfirmed SMA. He was treated with intravenous methylprednisolone, pyridostigmine and tacrolimus, resulting in dysphagia gradually recovering and he could consume a full meal.The patient was discharged without undergoing gastrostomy.Conclusions: SMA type III is a disease manifesting as slowly progressive muscle weakness.When the muscle weakness progresses and dysphagia appears subacutely in SMA type III patients, it is necessary to consider the complications of other diseases, such as MG.