- Newborn with Focal colonic fits.

Newborn aged 3 days delivered by Caesarean section with history of perinatal asphyxia and prolonged resuscitation and need intubation in delivery room admitted into our NICU on mechanical ventilator and show right upper limb colonic fits.

- Lowe Syndrome.

Lowe Syndrome

Lowe syndrome (oculocerebrorenal syndrome of Lowe) is a rare X-linked disorder characterized by:

-       congenital cataracts , glaucoma and blindness often develop.

-       mental retardation, hypotonia and hyporeflexia,

-       The renal abnormalities are tubular and include: hypophosphatemic rickets with ↓ serum phosphorus levels, low to normal serum calcium Levels,↑ serum alkaline phosphatase levels,pRTA, and aminoaciduria.

-  Significant proteinuria is common.

-  The disease is caused by mutations in the OCRL1 gene, which codes for a Golgi aparatus phosphatase.

-  There is no specific therapy for the renal disease or neurologic deficits.

-  Renal treatment may include alkali therapy, phosphate replacement, and vitamin D support.

-  Cataract removal is generally required.

-  Genetic counselling.

Death occur during childhood.

- Risk Factors for Recurrence of Febrile Seizures.

Risk Factors for Recurrence of Febrile Seizures

MAJOR Risk Factors:

• Age <1 yr
• Duration of fever <24 hr
• Fever 38-39°C (100.4-102.2°F)

MINOR Risk Factors:

• Family history of febrile seizures
• Family history of epilepsy
• Complex febrile seizure
• Daycare
• Male gender
• Lower serum sodium at time of presentation

- Having no risk factors carries a recurrence risk of approximately 12%;
- Having 1 risk factor carries a recurrence risk of approximately 25-50%;
- Having 2 risk factors carries a recurrence risk of approximately, 50-59%;
- Having 3 or  more risk factors carries a recurrence risk of approximately, 73-100%.

Ref: Mohamad A. Mikati and Abeer J. Hani,Febrile seizure,NELSON TEXTBOOK OF PEDIATRICS, 20th ed 2016