Nasir Al Jurayyan

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report

BackgroundCongenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare.Case presentationHere, we report on a female infant who presented with fever, convulsions, and polyuria. Examination revealed weight and length below the 3rd centile along with signs of severe dehydration. Fundal examination showed bilateral chorioretinitis. This infant developed hypernatremia together with increased serum osmolality and decreased both urine osmolality and specific gravity consistent with central diabetes insipidus. Serology for toxoplasma specific immunoglobulin M was high for both the mother and the baby and polymerase chain reaction for toxoplasma deoxyribonucleic acid was positive in the infant confirming congenital toxoplasmosis. Brain computerized tomography scans demonstrated ventriculomegaly associated with cerebral and cortical calcifications. Fluid and electrolyte abnormalities responded to nasal vasopressin therapy.ConclusionThis report highlights central diabetes inspidus as a rare presentation of congenital toxoplasmosis.

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

BackgroundTyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms.Case presentationWe report two Saudi siblings with TT1. Case 1 was a male infant who presented at 2 months old with fever, vomiting and refusal of feeding. Examination revealed a sick-looking infant with signs of severe dehydration and hypovolemic shock. He was jaundiced, and had hepatomegaly and elevated liver enzymes. Echocardiography was performed in light of a lack of response to inotropes, and revealed biventricular and interventricular septal hypertrophies. The ventricular ejection fraction was 65%. Urine organic acid analysis showed elevated succinylacetone, consistent with a diagnosis of TT1. An FAH gene study identified a c.1 A > G homozygous mutation. This patient responded well to intensive cardiorespiratory therapy, tyrosine-free formula, and oral 2-nitro-4- trifluoromethylbenzyl 1, 3 cyclohexanedione (NTBC). Echocardiographic findings reverted to normal after 4 weeks. Case 2 was the younger brother of Case 1, and was born 6 months after his brother had been confirmed with tyrosinemia. Pregnancy and delivery were uneventful. Serum amino acid and organic acid analyses 4 days after birth confirmed tyrosinemia. DNA analysis identified a c.1 A > G homozygous mutation, as in his brother. Echocardiography was normal. Special formula and NTBC were commenced on day 7 of life. The infant remained asymptomatic after 9 months of follow-up.ConclusionsThese cases highlight TT1 as a treatable cause of cardiomyopathy in children. It also supports the idea that early diagnosis and treatment may prevent the development of cardiomyopathy associated with tyrosinemia.

Isolated Adrenocorticotropin Deficiency as a Rare Cause of Hypoglycaemia in Children

An 11.5-year-old boy presented with recurrent attacks of hypoglycaemic coma. Endocrine investigations indicated adrenocortical insufficiency secondary to isolated ACTH deficiency, low ACTH and cortiso

Managing traumatic brain injury in children: When do we need a computed tomography of the head?

• Born in 1948 in Koka Al Mahas near Delgo in Nothern Province, Sudan (Figure 1A). • Elementary and Intermediate schooling in Northern Province. • Secondary school: Port Sudan Secondary School (Figure 1B). • Medical education: Faculty of Medicine, University of Khartoum [1]. • Internship (House Officer): Khartoum Teaching Hospital. • Medical Officer: Omdurman Teaching Hospital. • Medical Officer: Maridi Hospital (Currently, South Sudan).

Labial Agglutination (Adhesion) in Pre-Pubertal Girls. What a Primary Care Physician Should Know?

The purpose of the study is to describe the clinical presentation and management of labial agglutination in prepubertal girls who presented to the paediatric endocrine clinic between January 2011 and June 2012. Five subjects were identified. Their age ranged between 6 months and four years (mean age was 2 year and six months). All patients were discovered by their parents incidentally while changing the diapers. Three of them were treated for severe diaper rash, while in one, the mother tend to use hot olive oil as emollient for skin protection. Physical examination showed various degrees of occlusion with no urinary symptoms. All were treated topically with oestrogen and one had recurrence.