Management of neurological problems in children on home invasive mechanical ventilation.

Introduction: Home invasive mechanical ventilation (HIMV) has become a crucial long-term respiratory support for children with neurological disorders, but requires advanced technological skills and 24-h care. The increasing global population of children on HIMV is attributed to advancements in intensive care and improved survival rates.

Method: The manuscript will review the most common neurological problems encountered in children on HIMV.

A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the Gene.

Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations in the tRNA isopentenyltransferase () gene in chromosome 1p34.2. To date, only 10 types of allelic variants in the gene have been previously reported in 9 patients with COXPD35.

Hypomelanosis of Ito presenting with unilateral dilation of Virchow-Robin spaces: a case report.

Hypomelanosis of Ito is a rare heterogeneous neurocutaneous disorder often associated with central nervous and musculoskeletal system involvement. Herein, we report the first case of hypomelanosis of Ito in the literature presenting with unilateral dilation of Virchow-Robin spaces (VRS). A girl aged 16 years old presented with a 1-year history of headache.

Life-threatening intracranial bleeding in a newborn with congenital cytomegalovirus infection: late-onset neonatal hemorrhagic disease.

The authors present a case of a 36-day-old infant with intracranial and intramuscular hemorrhage due to vitamin K deficiency bleeding, who received intramuscular vitamin K prophylaxis at birth. In this case, laboratory tests showed anemia, liver dysfunction with cholestasis, and coagulopathy, consistent with vitamin K deficiency abnormality. Serological analyses showed that cytomegalovirus immunoglobulin (Ig)M and IgG avidity were both positive.