[Brain hypothermia therapy for newborns with severe birth asphyxia: an experience from a single neonatal intensive care unit].

The object of this study was to determine the efficacy and safety of brain hypothermia therapy (BHT) for neonates with severe birth asphyxia in our neonatal intensive care unit (NICU). We retrospectively reviewed medical records to analyze the prognosis and the factors affecting the prognosis of 21 patients who underwent BHT at the NICU between 2001 and 2007. The prognosis of those 21 patients at the time of discharge from the NICU was as follows: good-11 patients (52.4%); disability-5 patients (23.8%); and death-5 patients (23.8%). The ten poor prognosis patients (disability: 5, death: 5) had a shorter gestational period, a lower Apgar score, and a significantly higher blood lactate level in comparison with good-prognosis newborns. In particular, a gestational period of less than 34 weeks (3 patients) and a blood lactate level of at least 200 mg/dl (6 out of 7 patients) are considered to be factors for a poor prognosis. In addition, intraventricular hemorrhage was recorded in 7 patients of the 10 poor-prognosis patients and 4 of those patients developed acute renal failure during BHT. Consequently, these disorders are considered to worsen the prognosis. This study supports the efficacy and safety of BHT for neonates with severe birth asphyxia. On the other hand, BHT for the above mentioned types of high-risk patients still requires further consideration for the adoption and methods of BHT.

[A boy with nystagmus, refractory dystonia and apneic attack due to alternating hemiplegia of childhood].

We herein report the findings of a 2-year-6-month-old boy, who had been experiencing monocular pendular nystagmus, strabismus, and episodic eye deviation nystagmus, intractable dystonia and apneic attack which all began when he was 2 days of age. He underwent a complete blood count test, blood chemistry test, analysis of amino acids in the blood and urine, analysis of pyruvate/lactate in blood and cerebrospinal fluid, head computed tomography and magnetic resonance imaging and no abnormal results were identified. His attacks were resistant to multiple antiepileptic and dopaminergic drugs. He showed transient left and/or right hemiplegia after nystagmus, dystonia and/or apneic attacks at 8-months of age with retardation in intelligence. We diagnosed him to have alternating hemiplegia of childhood (AHC). We were unsure how to deal with his attacks after he was discharged from the hospital, however, resuscitation with the ambu bag by his mother at home and the intravenous infusion of diazepam or thiamylal at the hospital together was proven to be an effective method for treating his severe apneic attacks. The effect of diazepam and amantadine on these attacks was transient, however, the administration of flunarizine with amantadine resulted in an improvement in his attacks. We therefore consider the administration of flunarizine to be essential for the effective treatment of AHC in this case.

Treatment of intestinal perforation in extremely low-birthweight infants.

BACKGROUND: The mortality of intestinal perforation in extremely low-birthweight infants (ELBWI) is high. It still remains to be determined whether peritoneal drainage is a definitive treatment instead of laparotomy. The authors used bedside peritoneal drainage (BSPD) as the diagnostic procedure, and exchange transfusion (ET) as the preparatory procedure for invasive stress of laparotomy. The treatment protocol is composed primarily of laparotomy combined with BSPD and ET. METHODS: ELBWI who developed intestinal perforation during hospitalization between 1993 and 2000 were treated according to the aforementioned protocol. Their medical records were examined retrospectively. RESULTS: Eight ELBWI were identified. The subjects' birthweights ranged from 553 to 892 g and the gestational age ranged from 23 to 26 weeks. The subjects consisted of five cases with idiopathic intestinal perforation, two cases with necrotizing enterocolitis, and one case with meconium plug syndrome. Laparotomy was performed in all cases, and BSPD was performed in seven cases. Intestinal perforation was definitively diagnosed by X-ray only in three cases, while by stool-like drainage in BSPD in the other five cases. Seven (87.5%) cases survived. CONCLUSION: In this limited experience, the treatment mainly composed of laparotomy combined with BSPD and ET appeared beneficial.

A common mutation and a novel mutation in Japanese patients with van der Knaap disease.

Van der Knaap disease, or megalencephalic leukoencephalopathy with subcortical cysts (MLC), is an autosomal recessive disorder clinically characterized by macrocephaly, ataxia, spasticity, and mental decline. Magnetic resonance imaging (MRI) shows swollen brain with diffuse white-matter abnormalities and subcortical cysts, particularly in the anterior-temporal region. Recently, the MLC1 gene was identified as the gene responsible for this disorder, and mutations in this gene were described in several patients. We studied three Japanese patients with van der Knaap disease at the molecular genetic level. Two of them were homozygous for a previously-described mutation, S93L, and one was a compound heterozygote for S93L and a novel mutation, 452-468del+g, which leads to frameshift with a premature termination codon. Combining our data with previous reports allowed us to estimate the molecular genetic basis of this disorder in seven Japanese patients. In summary, S93L was observed in six of seven (85.7%) patients at least in one allele, and ten of 14 (71.4%) alleles had this mutation. Therefore, S93L appears to be fairly frequent in Japanese patients with van der Knaap disease, and analysis for this mutation in DNA isolated from leukocytes would provide for an easy and precise diagnosis of this disorder in Japanese patients.