Asma Awadalla

Asma Awadalla

Ministry of National Guard Health Affairs, Saudi Arabia



Biography

Dr Asma Awadalla is a Consultant Paediatrician in the King Abdullah Specialized Children’s Hospital under Ministry of National Guard Health Affairs in Riyadh, Saudi Arabia. She is also  jointly appointed as Assistant Professor in King Saud bin Abdulaziz University for Health Science present in Riyadh, Saudi Arabia.

 

 

Abstract

From King Abdullah Specialized Children’s Hospital, Riyadh, Saudi Arabia, I would like to share with other paediatricians 5 cases from the middle east:

 

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) Syndrome:

Four cases from different ethnic groups but all from middle east  with ARC syndrome a multisystem disorder which was reported as a  rare autosomal recessive disorders. Clinical presentations, physical examinationand and  investigations including genetic tests were described.In three patients we also highlighted the course of the disease and age at death for this life limiting condition.

 

A rare presentation of a complicated case of hypercalcemia:

A previously healthy 11 years old boy, who presented with  right flank pain for one week. Associated with vomiting. Apart from right renal angle tenderness system exam was normal. Investigations revealed increased serum and urinary calcium with elevated parathyroid hormone level. Rt ureteric stone was evident on plain film and renal USS. The patient had  laser fragmentation of right ureteric stone then  partial parathyroidectomy. Histopathology confirmed parathyroid adenoma which was suspected on the parathyroid scan. Outpatient follow up reassuring.

 

A case of Agammaglobulinemia:

Nearly 4 years old boy presented with sudden onset of Rt sided weakness and left-sided facial asymmetry. He had  2 previous admission for recurrent infections. Neuroimaging consistent with occlusion of left MCA and sub-acute infarction involving fronto-pareital  lobes. Echo shoed depressed cardiac function and immune work up showed Zero Bcells consistent with Agammaglobulinemia. Stroke was  likely thrombo-embolic secondary to cardiomyopathy/ LV dysfunction as he had  dilated left atrium and left ventricle with mild to moderate mitral insufficiency and moderately depressed left ventricular systolic function. Patient was started on regular IVIG.

 

Two  cases  of disseminated BCGgitis secondary to interleukin 12 defeciency and BCG-osis:

The first case is an 18 moth old boy presented with dissaminated BCG infection  (left axillary lymph node and splenic  abcecces) secondary to IL-12 deficiency on antiTB medication. The second case is a six month male infant with BCG related axillary lymphadenitis.