RESUMEN
We detected a novel CLN1 gene mutation (p.Arg151X, heterogenous) in a 12-year-old boy. Low level of palmitoyl protein thioesterase and granular inclusion pattern in lymphocytes were also consistent with infantile Neuronal ceroid lipofuscinosis (INCL). However, the clinical phenotype was that of atypical juvenile neuronal ceroid lipofuscinosis (JNCL) and consisted of progressive visual loss from the age of 8 years. His visual acuity was 6/60 in both eyes at first presentation, 6/36 one month later, then 6/6 (right eye), and 6/60 (left eye) 6 months later. However, after 4 months, visual acuity dropped to 6/60 in both eyes and at last follow-up, it was 6/60 (right eye) and 3/60 (left eye). Visual hallucinations were also reported. Persistent normal fundi findings, normal electroretinogram (ERG), and delayed visual evoked potentials (VEP) were suggestive of non-retinal adolescence form/atypical JNCL. Visual loss in JNCL is secondary to retinal dystrophy. Our observations suggest that JNCL should be considered in any children presenting with bilateral progressive visual loss even with normal fundi and/or delayed VEP. Electron microscopy of buffy coat and palmitoyl protein thioesterase enzyme study are useful tools in diagnosis. Pertinent issues regarding clinical symptomatology, ophthalmologic findings, and laboratory results are discussed.
RESUMEN
A 21/2-month-old girl presented with feeding difficulties of 8 weeks' duration. She cried, vomited, arched, and became rigid during every feeding. She was suspected of having gastroesophageal reflux disease. Dystonia and developmental delay became apparent at age 8 months. Nasogastric tube feeding and gastrostomy with Nissen's fundoplication were performed at age 7 and 12 months, respectively. She was treated with baclofen, trihexyphenidyl, and antireflux therapy, without benefit. She became severely developmentally delayed with marked head lag, dystonia, and rigidity. Levodopa therapy was initiated at age 21 months. She manifested dramatic improvement over the next year. Dystonia, rigidity, and retching disappeared soon after treatment. She experienced good catch-up in development. She exhibited poor head control and an inability to reach out at age 21 months, but bottom shuffling was observed at age 26 months, and walking and speaking three-word sentences at age 2 years and 10 months. Pertinent issues relating to signs, pathophysiology, genetics, and biochemical defects are discussed briefly.
