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...

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.

conclusions since most of the symptoms of metabolic diseases in newborns are same as the signs of sepsis or other common diseases of this period, and also early diagnosis and treatment of these illnesses, especially in diseases such as hyperglycemia, can be influential in neural function of babies, it calls for serious attention and clinical vision of the doctors to stop mortality caused by suc...

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...

PURPOSE The term hypotonia is often used to describe children with reduced muscle tone, yet it remains abstract and undefined. The purpose of this study was to identify characteristics of children with hypotonia to begin the process of developing an operational definition of hypotonia. METHODS Three hundred physical and occupational therapists were systematically selected from the memberships...

Two patients with the XXXXY syndrome are presented. Both boys are mentally retarded with short stature, muscular hypotonia, and hypogonadism. A constant feature of this syndrome is a varying degree of epiphysial dysplasia probably secondary to hypotonia and growth deceleration.