Natsue Nakamoto

Sumatriptan as a treatment for cyclic vomiting syndrome: A clinical trial

Background and objective: Cyclic vomiting syndrome (CVS) is associated with migraine. This study aimed to evaluate the efficacy of sumatriptan in treating CVS. Methods: Twelve patients were enrolled in this trial. Sumatriptan was administered either subcutaneously [(age × 4 + 20)/100 × 3 mg] or by nasal spray (NS; 20 mg). Response to the treatment was classified as complete, effective, or noneffective. Results: Eleven patients, who presented with 35 attacks, were treated by subcutaneous injection of sumatriptan. The treatment was responsive in 19 attacks. The efficacy of sumatriptan was high in attacks that occurred in cases with a family history of migraine compared to those without (p = .0482). Five patients were treated with sumatriptan NS for six attacks. The treatment was completely responsive in two of six attacks. We observed no adverse effects associated with sumatriptan treatment in this trial. Conclusion: We conclude that sumatriptan has potential efficacy in treating of patients with CVS.

Effective prophylactic therapy for cyclic vomiting syndrome in children using valproate.

This trial sought to evaluate our experience using the antimigraine prophylactic drug, use of valproate for the prophylactic management of cyclic vomiting syndrome (CVS) in children. Thirteen children diagnosed with severe CVS were enrolled. Prophylactic therapy consisted of valproate administered at a dose of 10-40 mg/kg/day. Upon enrollment in the study, all patients underwent diagnostic tests to rule out organic causes of their symptoms. Vomiting was severe enough in all patients to cause dehydration requiring hospitalization for intravenous rehydration. Nine of 13 patients did not respond to numerous previous medical therapies like propranolol, amitriptyline, cyproheptadine, phenobarbital, phenytoin, and carbamazepine. Three of 13 patients required combination therapy with valproate and phenobarbital. Of the 13 patients, two showed complete resolution of their symptoms, nine had marked improvement in their symptoms, as evidenced by infrequent attacks of reduced severity, and two failed to respond to valproate therapy. Four patients experienced relapse with a decreased dosage of valproate. Side effects associated with long-term valproate administration were not observed. Valproate appears to be effective for the prophylactic management of severe CVS, with 85% of all patients achieving at least a reduction in the frequency of attacks.

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2).

We report on an 18-month-old Japanese girl with 46,XX,del(22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anomalies, hypotonia and minor anomalies, such as a long philtrum, full eyelids, epicanthus, left transverse palmar crease and psychomotor developmental delay. Despite the chromosomal deletion, her physical growth was accelerated: her height was between the 75th and 90th percentiles for her age. Her brain MRI showed signs of delayed myelination. The three-dimensional MRI of the inner ear showed abnormalities of the cochlea and vestibule in both ears. Clinical features of the patient are similar to those of a patient with a del(22)(q13.1q13.33) karyotype previously reported by Romain et al.

Severe infantile myotubular myopathy with complete atrioventricular block

© 2008 Japan Pediatric Society In 1966 Spiro et al. described the fi rst case of myopathy in which structures resembling fetal myotubes persisted into adult life. 1 In 1969 the fi rst severe infantile form was described. 2 X-linked severe infantile myotubular myopathy is a severe muscular disease characterized by neonatal hypotonia, severe global muscular weakness and respiratory distress in affected male subjects. 3 The MTM1 gene, which is mutated in X-linked severe infantile myotubular myopathy, is located on Xq28 and was identifi ed in 1996 using positional cloning. 4 The majority of patients die during the fi rst year of life. The cause of death is usually respiratory insuffi ciency caused by severe muscle hypotonia and weakness. Prolonged survival is observed in the milder form, or as a result of prolongation of ventilation support. 3 None of the studies in the literature discuss the complete atrioventricular block (CAVB) in this disorder. Here, we describe an autopsy case of X-linked severe infantile myotubular myopathy with CAVB.

Hypothyroidism caused by iodine deficiency and iodine levels in enteral formulas

Background:  A 4‐year‐old female patient was diagnosed with hypothyroidism caused by iodine deficiency. The patients iodine levels in serum and urine were significantly low. The iodine concentration in the enteral formula was 1.6 µg/100 kcal as measured by inductively coupled plasma mass spectrometry. The patients iodine intake while receiving the enteral formula was calculated to be 16 µg/day, which is much lower than the recommended dietary reference intake of 80 µg for children aged 3–5 years. The purpose of this study was to assess iodine concentrations in 20 enteral nutritional formulas available in Japan in order to assess whether low iodine concentration is a characteristic of one specific formula or whether it is a more prevalent problem.

PO10.17 The Effect of Prophylactic Therapy with Valproate Sodium in Japanese Children with Cyclic Vomiting Syndrome

Background: Cyclic vomiting syndrome (CVS) is characterized by recurrent, stereotypic episodes of incapacitating nausea, vomiting, and other symptoms, separated by intervals of comparative wellness. The second edition of the International Headache Classification classifies CVS as the subgroup of childhood periodic syndromes, which are common precursors of migraine. CVS may respond to migrainedirected prophylactic agents such as beta-blockers, amitriptyline, and cyproheptadine. Since 1988, valproate has been prescribed for migraine prophylaxis. The aim of this therapeutic trial was to evaluate the use of valproate, an antimigraine prophylactic drug, for the prophylactic management of CVS in children. We used prophylactic therapy in patients in whom the episodes of CVS occurred more-than-once a month and/or who particularly has severe and disabling episodes. Methods: The nature of the trial and the possible side effects of the drug were explained to the prospective participants, i.e., parents as well as patients. After receiving an informed consent, 13 children diagnosed with severe CVS were enrolled in the study. Prophylactic therapy consisted of valproate administered at a dose of 10 40 mg. All patients underwent diagnostic tests to rule out organic causes of their symptoms. Vomiting was severe enough in all patients to cause dehydration requiring hospitalization for intravenous rehydration. Electroencephalogram (EEG) showed spikes or spike-wave complexes in two patients, and normal EEG in the remaining patients. Nine of the 13 patients did not respond to medical therapies such as propranolol, amitriptyline, cyproheptadine, phenobarbital, phenytoin, and carbamazepine. Three patients required combination therapy with valproate and phenobarbital. Results: Of the 13 patients, two showed complete resolution of their symptoms; nine showed marked improvement, which was evidenced by a low number of attacks with reduced severity; and two failed to respond to valproate therapy. Four patients experienced relapse with a decreased dosage of valproate. Side effects associated with long-term valproate administration were not observed, with the exception of mild liver dysfunction. Conclusions: Valproate appears to be effective for the prophylactic management of severe CVS, with 85% of all patients achieving a reduction in the frequency of attacks.