Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect / 소아과

PURPOSE: Mitochondrial dysfunction can present with various symptoms depending on the organ it has affected. This research tried to analyze the ophthalmologic symptoms and ophthalmologic examination (OE) results in patients with mitochondrial disease (MD). METHODS: Seventy-four patients diagnosed with mitochondrial respiratory chain complex defect with biochemical enzyme assay were included in the study. They were divided into 2 groups based on the OE results by funduscopy and were analyzed on the basis of their clinical features, biochemical test results, morphological analysis, and neuroimaging findings. RESULTS: Thirty-seven (50%) of the 74 MD patients developed ophthalmologic symptoms. Abnormal findings were observed in 36 (48.6%) patients during an OE, and 16 (21.6%) of them had no ocular symptoms. Significantly higher rates of prematurity, clinical history of epilepsy or frequent apnea events, abnormal light microscopic findings in muscle pathology, diffuse cerebral atrophy in magnetic resonance imaging, and brainstem hyperintensity and lactate peaks in magnetic resonance spectroscopy were noted in the group with abnormal OE results. CONCLUSION: Although the ophthalmologic symptoms are not very remarkable in MD patients, an OE is required. When the risk factors mentioned above are observed, a more active approach should be taken in the OE because a higher frequency of ocular involvement can be expected.

A case of hippocampal sclerosis diagnosed as cortical dysplasia due to preoperative brain MRI finding / 소아과

Hippocampal sclerosis (HS) is one of the most common features of intractable temporal lobe epilepsy. Generally it can be identified through brain magnetic resonance imaging (MRI) with high degree of sensitivity and specificity. Typical brain MRI findings of HS are hippocampal atrophy with hyperintense signal confined to the lesion. On the other hand cortical dysplasia exhibits blurring of the gray-white matter junction and abnormal white matter signal intensity. We present a case where preoperative brain MRI strongly suggested the presence of diffuse cortical dysplasia in the left temporal lobe but postoperative pathology revealed the temporal lesion to be unremarkable except for hippocampal sclerosis.

Ocular manifestations in Leigh syndrome / 소아과

PURPOSE: Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. METHODS: Funduscopy was conducted on 24 subjects, who were chosen among those diagnosed as having mitochondrial respiratory chain complex defect and who were clinically suitable for the criteria of Leigh syndrome. Their clinical features, ophthalmologic symptoms, and ophthalmologic examination results were retrospectively analyzed. RESULTS: Of the 24 patients with Leigh syndrome, 11 developed ophthalmologic symptoms and no abnormal finding was observed in 13. The most frequent abnormal finding was visual disturbance in 5 patients. Funduscopy revealed abnormal findings in 17 patients; retinal pigmentation was the most frequent abnormality and was seen in 9 patients. CONCLUSION: Funduscopy can be an important screening test to find ophthalmologic abnormalities among patients with mitochondrial disease (MD), including those patients whose ophthalmologic symptoms are inconspicuous. It is predicted that an improved screening test can be made in the future that will identify risk factors related to ophthalmologic symptoms.

A Case of Late Onset Atypical Craniosynostosis

Craniosynostosis is a congenital deformity causing disorder in the growth of the skull and brain parenchyma, resulting from the fusion of the cranial sutures of calvaria or basilar before birth or within a few months after birth. In most cases it is diagnosed just after birth. However, some cases of vague diagnoses were reported, which was due to the late onset age, and the absence of typical symptoms and typical radiological findings. We make a report of a case in which the three-dimensional CT was helpful in making a diagnosis of a patient with minimal forms of craniosynostosis having minimal cranial deformities revealing just late onset raised intracranial pressure, along with the investigation of medical literature.