zellweger syndrome (zs) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. herein, a 3-month-old female with zs is presented who was referred because of increased liver enzymes (subclinical hepatitis), which was detected in work-up of her neck cyst, severe h...

Neonatal cervical osteomyelitis is an extremely rare condition. It is a potentially dangerous condition with high fatality and disastrous consequences. Hence, it is important to recognise it early to prevent long-term morbidity and sensory-motor disabilities. It can have an indolent course conspicuous with the absence of pyrexia. We report a four-week-old infant with erosive osteomyelitis invol...

background: improving the neonatal health and reducing the neonatal mortality rate is valuable for not only health reasons, but social, psychological and economic reasons. it has advantages not just for the neonatal period of life but for the whole life. unfortunately in iran, in spite of efforts, there has been little success in decreasing the neonatal mortality rate. since investigating the c...

INTRODUCTION Benign neonatal hemangiomatosis is a condition in which multiple cutaneous hemangiomas appear at birth or shortly thereafter; visceral complications are absent. Here, we report a case of a consumption hypothyroidism in an Egyptian baby with benign neonatal hemangiomatosis. CASE PRESENTATION An 8-month-old Egyptian boy with benign neonatal hemangiomatosis was referred to our insti...

The onset of sleep is associated with a reduction in upper airway patency and an increase in resistance, an effect observed in normal humans and animals, and typically present in snorers and patients with obstructive sleep apnea (OSA)/hypopnea syndrome (1–5). Patients with OSA commonly have structural abnormalities that result in a narrowed upper airway and collapsible pharyngeal walls. During ...

objective a 4-month-old female with osteogenesis imperfecta (oi) type ii was admitted in picu of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. due to severe hypotonia, ncv and emg were performed, and spinal muscular atrophy (sma) type i was diagnosed.

Succinic semialdehyde dehydrogenase (SSADH) deficiency or 4-Hydroxybutyric Aciduria is an autosomal recessive inherited disorder of amma-aminobutyric acid (GABA) degradation. It is characterized by developmental delay, infantile-onset hypotonia, cognitive impairment language deficit, and ataxia. Epilepsy, aggression, Hyperkinetic behavior, hallucinations, and sleep disturbances have been descri...

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of K...