CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy / 대한소아신경학회지

Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset of seizures and visual impairment (3–8 years) than in the classic form (2–4 years) are caused by mutations of the gene encoding ceroid lipofuscinosis neuronal protein 6 (CLN6). In a girl with progressive myoclonus epilepsy, we found heterozygous variants of CLN6 (NM_017882.2; NP_060352.1): c.296A>G (p.Lys99Arg) and c.307C>T (p.Arg103Trp). They were identified with whole-exome sequencing and verified with Sanger sequencing. At 7 years and 9 months, our patient had developed multiple types of seizures, prominent myoclonus with photosensitivity, regression in motor and language skills, pyramidal and extrapyramidal signs, and brain atrophy in brain images, all of which were progressive and were compatible with vLINCLs. However, this first Korean report shows no visual impairment, which resembles the previously reported Japanese case.

Clinical and Histopathological Study on the Membranocystic Changes in the Panniculitis / 대한피부과학회지

BACKGROUND: Membranocystic change represents a distinctive form of pathology in adipose tissue. It has been observed in a variety of inflammatory and noninflammatory dermatoses. OBJECTIVE: Our purpose was to find the clinical and histopathological features of membranocystic change in the panniculitis and we attempted to review the pathogenesis. METHODS: We reviewed medical records, clinical photographs, and histopatologic findings of 14 patients having membranocystic changes in biopsy specimen. RESULTS: (1) There was a female predominance (79%). (2) The most common primary lesions were the subcutaneous nodules and the most predilection sites were the lower legs. (3) The underlying diseases were variable such as erythema nodosum, lipoatrophy, sparganosis, sporotrichosis, accelerated nodulosis, necrobiosis lipoidica, periarteritis nodosa, tibial artery stenosis, dermatomyositis, lupus erythematosus profundus, oil granuloma and nodulocystic fat necrosis. (4)The membranes of cyst were positive with periodic acid-Schiff stain with diastase and sudan black B. Fluorescence examination gave a yellow autofluorescence. These findings indicated the lining materials were ceroid. CONCLUSION: Membranocystic change appears to be entirely nonspecific and may be seen in many types of the subcutaneous inflammatory process. Although ischemic insult has received the most attention in dermatologic literature as the primary cause, it is likely that this change results from various insults to adipose tissue, including infectious, autoimmune, and physical processes.