Familial mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome: Three case reports.

BACKGROUND: Mitochondrial encephalomyopathy (ME) is a multisystem metabolic disease that primarily affects the central nervous system and skeletal muscle. It is caused by mutations in mitochondrial or nuclear DNA, resulting in abnormal mitochondrial structure and function and insufficient ATP synthesis. The most common subtype is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome. In recent years, reports of MELAS syndrome have increased but familial cases are rare. CASE SUMMARY: We report a case of familial MELAS syndrome. Cases 2 and 3 are sisters and case 1 is their nephew. All are short in stature and showed stroke-like episodes with rapid onset and no obvious symptoms such as paroxysmal headache, aphasia, or blurred vision. After admission, blood lactate levels were significantly higher than normal. The patients underwent magnetic resonance imaging of the head. Cases 1 and 2 were considered to have ME, whereas case 3 was considered to have a space-occupying lesion in the left temporal lobe. Pathological evaluation showed no obvious tumor cells in the brain lesions of case 3. Muscle biopsy or genetic test results were consistent with ME. The patients were diagnosed with MELAS syndrome and their symptoms improved with intravenous infusions of coenzyme Q10, coenzyme A, vitamin B, and vitamin C. At the 6 mo follow-up, there was no recurrence or progression. CONCLUSION: When a patient has MELAS syndrome, familial MELAS syndrome should be considered if related family members have similar symptoms.

Suprasellar cistern tuberculoma presenting as unilateral ocular motility disorder and ptosis: A case report.

BACKGROUND: Intracranial tuberculoma is a rare and serious type of tuberculosis, which mostly occurs in the frontoparietal and cerebellar hemispheres, with predominance in the gray-white matter junction area, while tuberculomas only in the cistern are extremely rare with only a few reported cases in the literature. We describe a unique case of isolated tuberculoma in the suprasellar cistern, with only right ocular motility disorder and upper eyelid ptosis. CASE SUMMARY: A 5-year-old boy without any medical history presented with right ocular motility disorder and upper eyelid ptosis one month ago. He had no history of fever, headache, vomiting, convulsions, or limb weakness. Neurological examination showed right third cranial nerve palsy with restrictions of eye movements and ptosis, pupil dilation and negative light reflex. Imaging suggested a space-occupying lesion in the suprasellar cistern with calcification and ring-enhancement. Moreover, no Mycobacterium tuberculosis was found in cerebrospinal fluid by polymerase chain reaction (PCR). The lesion was initially diagnosed as a tumor, while postoperative pathology combined with PCR indicated tuberculoma. The patient continued postoperative anti-tuberculosis treatment. At present, the patient's condition is stable and the symptoms are partially relieved compared with those before surgery. CONCLUSION: This case confirmed that isolated intracranial tuberculoma can occur in the suprasellar cistern. Therefore, for space-occupying lesions in the suprasellar cistern, tuberculoma should be included in the differential diagnosis even if there is no history or indication of tuberculosis infection.