Many pediatric neurological disorders are caused by genetic factors. Therefore, genetic testing is often required for final diagnosis, prognosis prediction, and genetic counseling. Prior to performing genetic research, pediatric neurologists must obtain the approval of the Institutional Review Board. Moreover, according to the “Ethical Guidelines for Human Genome/Gene Analysis Research,” anonymity of patient samples must be maintained. Although the guideline for genetic research are not generally applied for genetic testing in routine bedside medical care, the guideline adopted by the Japan Medical Association must be followed, because genetic information from a personal genome is patient-specific. Pediatric neurologists must also be aware of the policies adopted to obtain informed consent from children and patients who are incapable of making their own decisions. They should develop a strategy for collaboration with clinical geneticists and for making a prenatal diagnosis.

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  Objective: We clarified the asymptomatic deficiency of serum free-carnitine in the severe motor and intellectual disabilities (SMIDs) fed with enteral carnitine-deficient formulas for years, and investigated the adequate method to supply enteral L-carnitine and maintain its normal levels. Methods: In 45 SMIDs who has been fed with carnitine-deficient formulas and/or receiving valproate, the serum free-carnitine levels were examined. To the carnitine deficient cases we introduced L-carnitine and/or a carnitine-supplemented formula to normalize and maintain the serum free-carnitine levels. Results: Thirty-one out of 34 cases (91.2%) fed with carnitine-deficient formulas for years had serum free-carnitine deficiency. Supplement of 15～30 mg/kg/day L-carnitine was effective to normalize the serum free-carnitine levels within 3 months. After successful supplementation, smaller dosage of L-carnitine (100 or 300 mg/day) was enough to maintain the normal levels. Replacement of the carnitine-deficient formulas to carnitine-supplemented ones was also useful to normalize the serum free-carnitine levels. Conclusions: Smaller dosage of L-carnitine or a carnitine-supplemented formula is sufficient to normalize and maintain the serum free-carnitine levels in SMIDs fed with carnitine-deficient formulas for years.

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  Objective: To assess the risk of recurrence after a first unprovoked seizure in childhood. Methods: This was a prospective study of 250 children aged 1 month to 16 years after a first seizure who presented between November 1, 2008 and October 31, 2012. None of the children was treated after the first seizure. Recurrence rates were calculated by Kaplan-Meier survival analysis, and univariate analyses for recurrence risk were performed using the Cox proportional hazards model. Results: One hundred and thirty-five children (54%) had recurrence. Thirty-seven (27%) of the recurrences occurred in the first month, 71 (53%) within 3 months, 95 (70%) within 6 months, and 118 (87%) within 1 year. The risk of seizure recurrence was 38%, 47%, 54%, and 58% at 0.5, 1, 2, and 5 years, respectively. The risk factors for seizure recurrence were remote symptomatic etiology, abnormal electroencephalography, age≥8 years, and a history of prior febrile seizure (partial seizure). Conclusions: Children should not be routinely treated after a first seizure, and it is important that we consider the recurrence rate and risk.

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  Objective: The term benign congenital hypotonia is retrospective and refers to infants who are hypotonic at birth or shortly thereafter but later show a normal tone. It encompasses many different pathological processes that affect the brain, motor unit, or both. The majority of affected children have cerebral hypotonia. An increased incidence of mental retardation, learning disabilities, and other sequelae of cerebral abnormality are evident later in life, despite the recovery of a normal muscle tone. We followed floppy infants who were pointed out as showing motor delay on health examinations at 4 or 9 months of age until at least 2 years of age. Methods: We selected 32 floppy infants (15 males and 17 females) born uneventfully, with no family history, major anomalies, or abnormal findings on brain imaging, and no chromosomal study (G-banding and fluorescence in situ hybridization), serum creatine kinase level, blood lactate and pyruvate level, or blood amino acid abnormalities. Results: All 32 infants achieved head control, but 2 failed to learn to sit unsupported. These two were diagnosed based on gene analysis with Rett syndrome and spinal muscular atrophy, respectively. Although 27 among the 32 patients became ambulant, 18 (67%) showed mental retardation and 5 (19%) also had autism spectrum disorder. Five patients who could not walk were suspected to have congenital myopathy or congenital malformation syndrome. Conclusions: After learning to walk independently and recovery of the normal muscle tone, many floppy infants showing motor delay on health examinations at 4 or 9 months of age developed mental retardation and autism spectrum disorder. Prospective follow-up is necessary for early diagnosis and intervention. For patients showing no motor and mental development, further laboratory studies including appropriate gene analysis are important for a definite diagnosis.

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  Objective: The present study aimed to evaluate the efficacy of surgical treatment for intractable aspiration in patients with severe motor and intellectual disabilities (SMID) and neuromuscular diseases (NMD). Methods: A retrospective analysis was performed of 20 patients who underwent laryngotracheal separation (LTS) or the tracheal flap method (TFM) between 2003 and 2012 at Gunma Children's Medical Center. Results: All patients were bedridden and fed either through a naso-gastric or naso-esophageal tube or via a gastric fistula. Of the 20 participants, 60% underwent surgical treatment before 3 years of age. The incidence of aspiration pneumonia decreased after surgery, and 8 of 10 patients, who were previously hospitalized for a long duration, were discharged. The most frequent complications observed were granulation around the tracheostomy stoma and endotracheal granuloma. Two patients presented with a tracheal fistula. Conclusion: LTS and TFM can be used as treatment modalities for patients with intractable aspiration along with SMID and NMD. In patients with intractable aspiration, after considering their underlying conditions, adaptation and type of operative procedures should be determined.

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  Irlen syndrome is a proposed perceptual processing disorder characterized by visual distortions while reading. Patients with this syndrome may experience light sensitivity, visual stress, and other related problems such as dyslexia. Tinted lenses and colored overlays have been designed to help individuals with the symptoms of Irlen syndrome. However, there is still debate over the effectiveness of these interventions and whether this syndrome actually exists. In this report, we describe a case involving an 8-year-old girl with dyslexia who experienced severe visual hypersensitivity and whose symptoms completely resolved after wearing tinted lenses. While it is possible that she experienced a psychogenic visual disturbance that was relieved because of the placebo effect, the clinical course of her symptoms matched the findings previously described by Irlen. The patient was unable to read without tinted lenses. With tinted lenses, she could read at the appropriate age level, suggesting that her difficulty was due to a problem in optical information processing. The concepts underlying Irlen syndrome are vaguely defined, and several groups insist that the visual stress associated with this syndrome might be responsible for dyslexia as well as other disorders. These ambiguous criteria may be responsible for the criticism over the validity of this condition. Although this was only an anecdotal case, our patient exhibited the core functional deficit described in Irlen syndrome and showed a dramatic improvement with tinted lenses; therefore, this case may facilitate investigations into the mechanism underlying Irlen syndrome, if it actually exists. Although further studies are required to confirm the validity of this syndrome and the treatment approach, Irlen syndrome should be recognized as a disorder since its symptoms can be easily relieved by wearing tinted lenses or color filters.

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  We report the case of a 4-year-old girl who presented with recurrent posterior reversible encephalopathy syndrome (PRES). She was diagnosed with B-precursor acute lymphocytic leukemia (ALL), and was administered remission-induction chemotherapy. On day 28 of the induction therapy, she experienced seizure and prolonged unconsciousness. Blood pressure was slightly elevated. MRI revealed cortical cytotoxic edema in the right temporal and occipital lobes. In the right occipital white matter the lesion with vasogenic edema also existed. Three days later, MRI showed vasogenic edema in subcortical white matter of the right temporal right occipital and bilateral occipital lobes. The lesions had receded with time. Since the seizure occurred, the chemotherapy had been discontinued. The episodes of seizure and prolonged consciousness recurred 22 days later. MRI revealed vasogenic edema in the right occipital lobe, and MR angiography demonstrated vessel irregularity and reduced branch visualization in the middle and posterior cerebral arteries. Arterial spin-labeling (ASL) showed hypoperfusion in both occipital lobes. It suggests that vasoconstriction and hypoperfusion could lead to recurrent PRES in this case. It is possible that ASL might be more sensitive than MRI in detecting the lesions of PRES. It should be noted that PRES might recur in leukemia.

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