[Respiratory complications in children with Chiari malformation type II associated with myelomeningocele].

BACKGROUND: Management of life-threatening respiratory complications of Chiari malformation type II (CM II) is important in patients with myelomeningocele (MMC). The objective of this study is to determine the clinical features and outcome of respiratory complications in MMC. METHODS: The study was a retrospective chart review of 50 patients with MMC who were treated from birth between 2002 and 2013 at the National Center for Child Health and Development, Tokyo Japan. Respiratory complications were divided into three types; upper airway obstruction, sleep-disordered breathing (SDB) and prolonged expiratory apnea with cyanosis (PEAC). SDB was further divided into two subtypes: sleep apnea type and central hypoventilation type. RESULTS: Twelve (24%) of the 50 MMC patients had respiratory complications. Among them, most had at least two types of complications; six had upper airway obstruction, 10 had SDB, and 10 had PEAC. The respiratory complications appeared during the first six months in most patients. Surgical decompression was performed 11 of the patients during 10 and 60 days after respiratory symptoms appeared; of which, four required invasive respiratory support in spite of decompression surgery. Three patients with central hypoventilation type SDB required ventilator support with tracheostomy, and one with upper airway obstruction needed tracheostomy. In the patients with PEAC, the frequency of apneic spells decreased over time. There was no death in the patients with respiratory complications of MMC. CONCLUSIONS: In addition to surgical decompression for CM II, management of respiratory complications may improve mortality outcome. Such screening should be performed in patient with MMC particularly in the first six months.

A female newborn having mosaicism with near-tetraploidy and trisomy 18.

Tetraploidy is characterized by the presence of four complete sets of chromosomes in an individual. Full tetraploidy is usually considered lethal. To date, only ten live-births with the condition have been reported. Trisomy 18 without neonatal intensive treatment is also known to be fatal. We report a female newborn who had mosaicism with near-tetraploidy and trisomy 18 (94,XXXX,+18,+18/47,XX,+18). She had features of conditions. The most plausible mechanism of the formation was a failure of cytoplasmic cleavage at the first division of the zygote. The longer survival of the patient compared with the 10 previously reported live-births with non-mosaic tetraploidy may be due to the dominance of the trisomy cells. We suggest that non-tetraploid cells, even when trisomic for chromosome 18, might contribute to longer survival in comparison to non-mosaic tetrapolid patients.

Measuring body composition by bioelectrical impedance analysis for nutritional management in children with respirator-dependent severe motor and intellectual disabilities due to hypoxia.

Objective: Nutritional management in children with medically dependent severe motor and intellectual disabilities (SMID) is difficult. SMID children with respirator support sometimes showed obesity in spite of proper nutrition. The optimal energy intake in these children remains unclear. The objective of this study is to determine the features of body composition and the optimal calorie intake in children with respirator-dependent SMID due to severe hypoxia. Methods: The study was a retrospective chart review of five children with respirator-dependent SMID due to severe hypoxia. They were treated between 2012 and 2015 at the National Center for Child Health and Development in Tokyo, Japan. Their ages ranged from one to nine years. All patients were clinically stable under continuous mechanical ventilation. Body composition including body fat percentage (%Fat), muscle mass (MM) and fat-free mass (FFM) were measured by a multi-frequency bioelectrical impedance analysis (BIA) (InBody S20®). When necessary, adjustments for calorie intake were made. Results: %FAT was high (range, 40 to 70%) and MM was low, indicating that all children were under excessive nutrition. A markedly decrease in FFM was also observed. After the adjustment, daily calorie intake was maintained at 210 to 350 kcal/day. Daily calorie intake per FFM ranged from 25 to 42 kcal/kg/day. Conclusions: The children's body composition revealed that FFM was decreased. As FFM is a major influencing factor for basal metabolic rate, FFM-based calorie adjustment is useful to determine the optimal calorie intake in children with respirator-dependent SMID due to severe hypoxia. Nutritional assessment using BIA is recommended in such children.

Craniovertebral junction stenosis in Lenz-Majewski syndrome.

We report a girl with Lenz-Majewski syndrome associated with craniovertebral junction stenosis that led to communicating hydrocephalus and cervical myelopathy. The life-threatening complication was related to progressive craniovertebral hyperostosis that rapidly exacerbated during early childhood. Despite initial success of surgical intervention at 2 years of age, she developed apneic spells and died suddenly at age 5 years. Close monitoring for craniovertebral junction stenosis is essential to reduce morbidity and mortality in children with Lenz-Majewski syndrome.

[Long term clinical course of Canavan disease--a rare Japanese case].

Canavan disease (CD), which is a rare disease in Japan, is an autosomal-recessive neurodegenerative disorder caused by mutations in aspartoacylase, an enzyme that deacetylates N-acetylaspartate to generate free acetate in the brain. CD affected children usually die by the age of 10 years. Here we report a long term clinical course of a 21-year-old Japanese woman who was diagnosed as CD at the age 4. This patient is the only reported case of CD in Japan that has been biochemically confirmed. Although this patient is currently bed-ridden with spastic quadriplegia and severe mental retardation, her general condition is quite stable. This patient showed a milder clinical course compared to the majority of CD patients. Because this is the only reported case of CD in Japan, we hypothesize that there might be an ethnic phenotypic polymorphism in CD.

Liver transplantation in a patient with propionic acidemia requiring extra corporeal membrane oxygenation during severe metabolic decompensation.

LDLT is an effective treatment modality in patients with congenial metabolic liver disease. PA is a rare autosomal recessive disorder caused by deficiency in propionyl-CoA carboxylase. The present study demonstrates a two-yr-old girl with PA who was admitted for metabolic decompensation and immediately treated with CHD and protein intake restriction at 46 days of age. Two yr later, the patient was readmitted for severe metabolic decompensation with complete atrioventricular block and ventricular fibrillation. CHDF and ECMO were indicated because of progressive metabolic and cardiac deterioration. After full recovery of the ejection fraction, planned LDLT was performed to prevent further metabolic decompensation and fatal cardiac insufficiency. No significant events occurred after the operation and the condition of the patient is stable with continued protein restriction and carnitine supplementation.

[Early and serial electrodiagnostic findings in childhood Guillain-Barré syndrome].

We investigated the usefulness of electrodiagnostic (EDX) studies for the early diagnosis of childhood Guillain-Barré syndrome (GBS). We retrospectively reviewed 5 patients (ages, 17-96 months) who fulfilled the diagnostic criteria of GBS. The EDX studies were performed at least twice;they included 1 or more following:motor nerve conduction study (MNCS), F-wave study, electromyography (EMG), and sensory nerve conduction study. The first and second EDX studies were performed at 8 days (range:4-13 days) and 14 days (range: 12-27 days) after the onset of motor symptoms, respectively. Although only 3 of 5 patients showed abnormal findings in the first MNCS, additional EDX studies, namely, F-wave study and EMG confirmed the presence of peripheral neuropathy in all patients. Regarding the classification of GBS subtypes, the results of the first EDX studies lead to the diagnosis of acute inflammatory demyelinating polyneuropathy (AIDP) in 3 patients and the remaining two were diagnosed with AIDP based on results of the second studies. We concluded that serial EDX studies, including F-wave studies, are essential for the early and definite diagnosis of childhood GBS.