Ibtisam B. Elnour

Primary immunodeficiency diseases in oman: five years' experience at sultan qaboos university hospital.

BackgroundPrimary immunodeficiency diseases (PIDs) are considered rare but are generally assumed to be more common in Middle Eastern countries. The prevalence and characteristics of PIDs are unknown in Oman.MethodsSultan Qaboos University Hospital is the national referral center for PID in Oman during the study period. Patients were diagnosed and classified according to the clinical and laboratory criteria of PID reported by the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. A registry was created, and patient data were analyzed between July 2005 and July 2010.ResultsOver a 5-year period, there were a total of 90 patients, with an estimated prevalence of 4.5 cases per 100,000. The most common form of immunodeficiency was phagocyte disorders (42%), mainly chronic granulomatous disease, followed by predominantly antibody disorders (18%), other well-defined PID syndromes (13%), and combined immunodeficiencies (12%). The median age of onset of symptoms was 9 months. The median age of diagnosis was 24 months. Consanguinity was present in 81% of patients. The most common infectious presentation was pneumonia (42%), followed by deep abscess (27%) and BCGosis (12%). A total of 25% of patients required intravenous immunoglobulins treatment, 4% required gamma interferon therapy, and 11% underwent bone marrow transplantation. Of all PID patients, 90% survived treatment, whereas 10% did not.ConclusionsThe estimated minimum prevalence of PID in Oman is 4.5 cases per 100,000, with a predominance of phagocyte disorders. Consanguinity is a significant factor; pneumonia and deep abscesses were the main infectious presentations. The overall survival rate was 90%. Strategies are needed to improve the care for PID patients and to increase the awareness among parents and physicians.

Clinical and molecular findings of chronic granulomatous disease in Oman: family studies

Chronic granulomatous disease (CGD), a rare inherited disorder of the innate immune system, results from mutations in any one of the five genes encoding the subunits of the nicotinamide adenine dinucleotide phosphate‐oxidase (NADPH) oxidase enzyme, and is characterized by recurrent life‐threatening bacterial and fungal infections. Molecular analysis of 14 Omani CGD patients from 10 families, diagnosed to have CGD on clinical (recurrent infections) and biochemical grounds (positive for both the nitroblue tetrazolium (NBT) test and the dihydrorhodamine (DHR‐1,2,3 assay), revealed that only one patient had X‐linked CGD, with a large deletion involving both the gp91‐phox gene (CYBB) and the McLeod gene (XK). The remaining 13 patients were all homozygotes from a previously described c.579G>A (p.Trp193X) mutation in the NCF1 gene on chromosome 7, responsible for autosomal recessive CGD (AR‐CGD). Although X‐linked CGD is the most common type of CGD disorder in most population groups, AR‐CGD is the most prevalent type in Oman.

dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state

Mutations in the anion exchanger 1 (AE1) gene encoding the erythroid and kidney anion (chloride–bicarbonate) exchanger 1 may result in familial distal renal tubular acidosis (dRTA) in association with membrane defect hemolytic anemia. Seven children presenting with hyperchloremic normal anion gap metabolic acidosis, failure to thrive, and compensated hemolytic anemia were studied. Analysis of red cell AE1/Band 3 surface expression by Eosin 5′‐maleimide (E5M) was performed in patients and their family members using flow cytometry. Genetic studies showed that all patients carried a common SLC4A1 mutation, c.2573C>A; p.Ala858Asp in exon 19, found as homozygous (A858D/A858D) mutation in the patients and heterozygous (A858D/N) in the parents. Analysis by flowcytometry revealed a single uniform fluorescence peak, with the mean channel fluorescence (MCF) markedly reduced in cases with homozygous mutation, along with a left shift of fluorescence signal but was only mildly reduced in the heterozygous state. Red cell morphology showed striking acanthocytosis in the homozygous state [patients] and only a mild acanthocytosis in heterozygous state [parents]. In conclusion, this is the first description of a series of homozygous cases with the A858D mutation. The E5M flowcytometry test is specific for reduction in the Band 3 membrane protein and was useful in conjunction with a careful morphological examination of peripheral blood smears in our patient cohort.

Vehicular entrapment and heat stroke in three children: is it a form of child neglect?

The medical records of three children who were entrapped inside vehicles are reviewed and their outcome following the incidents were assessed in this report. The children developed heat stroke following the incidents and survived after several days in coma but with severe cognitive functions impairment. Two of the children were left with hyperactivity and attention deficit, while the third had active epilepsy.Vehicular entrapment heat stroke is one of the preventable brain injuries in children. Several children get entrapped in cars or other vehicles yearly and survivors are left with significant brain damage. The usual cause for brain damage is heat stroke the lesson learned was to never leave children unattended in cars. Therefore, it is essential to double check that doors are locked when leaving children unattended near vehicles.

Bilateral Anterior Ischaemic Optic Neuropathy in a Child on Continuous Peritoneal Dialysis: Case report and literature review

Non-arteritic anterior ischaemic optic neuropathy (NAION) is a serious complication of continuous peritoneal dialysis (CPD) which can lead to poor vision and blindness. We report a five-year-old girl who had undergone a bilateral nephrectomy at the age of one year and was on home CPD. She was referred to the Paediatric Ophthalmology Unit of Sultan Qaboos University Hospital, Muscat, Oman, in 2013 with acute bilateral vision loss, preceded by a three-day history of poor oral intake. At presentation, the patient had severe systemic hypotension. An ophthalmological examination revealed severe bilateral visual impairment and NAION. She was treated with intravenous methylprednisolone and normal saline boluses. At a five-month follow-up, the visual acuity of the right eye had improved but vision in the left eye remained the same. Acute bilateral blindness due to NAION while on CPD is a rare condition in childhood. Paediatricians should be aware of this complication in order to ensure prompt management.

Posterior Reversible Encephalopathy Syndrome in Two Omani Children with Underlying Renal Diseases

Posterior reversible encephalopathy syndrome (PRES) is a neurological condition with a combination of clinical and radiological features. Clinical symptoms include headaches, confusion, seizures, disturbed vision or an altered level of consciousness. Classic magnetic resonance imaging (MRI) findings indicate subcortical and cortical oedema, affecting mainly the posterior cerebral region. We report two paediatric cases of PRES with underlying renal diseases presenting at the Sultan Qaboos University Hospital in Muscat, Oman, in April 2010 and August 2011. The first case was an 11-year-old girl diagnosed with systemic lupus erythematosus and the second was a six-and-a-half-year-old boy on peritoneal dialysis due to multi-drug-resistant nephrotic syndrome. Both patients were hypertensive and treated with blood pressure control medications. No residual neurological dysfunction was noted in the patients at a one-year follow-up and at discharge, respectively. The role of hypertension in paediatric PRES cases, among other important risk factors, is emphasised. Additionally, MRI is an important diagnostic and prognostic tool. Prompt diagnosis and aggressive management is fundamental to preventing permanent neurological damage.

A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults. Hereby, we describe a three- year old male child who presented with generalized edema and global developmental delay. Investigations revealed PKU along with FSGS. We assume that congenital nephrosis ameliorated the picture of PKU, and had a salutary effect on the growth and development. Such coexistence between PKU and FSGS hasn’t been described before.

Rickettsial Infection Diagnosed in a Clinical Context in Oman

Dear Sir, An 11-year-old boy presented to the Sultan Qaboos University Hospital (SQUH), Muscat, Oman, in 2016 with a one-week history of scattered nodular-like erythematous lesions over the arms, petechial rashes over the dorsa of both feet and itchy maculopapular urticarial rashes over both thighs [Figure 1]. He had a high-grade fever which reached 39.5 °C as well as a headache, generalised body pain and swelling around the joints. The patient lived in Muscat and had no known history of tick bites, travel or contact with animals. A systemic examination revealed hepatomegaly and splenomegaly (both organs enlarged to 3 cm below the costal margin) as well as generalised body tenderness, myalgia and meningism. The bilateral knee and ankle joints were swollen with some restriction in movement, mainly flexion with partial extension. All vital signs were stable and normal, except for the persistent high-grade fever, which responded only partially to antipyretic medications. Initial investigations showed mild proteinuria (700 mg/dL over a 24-hour period) and microscopic haematuria (1+). A complete blood count revealed normal amounts of haemoglobin cells and platelets; however, the patient had leukocytosis (white blood cell count: 24,000/m3) and neutrophilia (absolute neutrophil count: 21,400/m3). His coagulation profile was normal. Further investigations indicated high C-reactive protein levels (125 mg/L), a high erythrocyte sedimentation rate (58 mm/hour), persistent unexplained low sodium levels (128 mmol/L), low chloride levels (89 mmol/L), very high creatine kinase levels (781 U/L), low serum albumin levels (29 g/L), normal renal function, normal complement levels, elevated alanine aminotransferase levels (190 IU/L) and elevated aspartate aminotransferase levels (250 U/L). An initial chest X-ray, ultrasound of the abdomen and gallium scan were normal. Autoimmune causes, including vasculitis, immune deficiency, malignancy and pyrexia of unknown origin, were ruled out with various investigations, including antinuclear antibody, anti-double-stranded DNA, antineutrophil cytoplasmic autoantibody, antimyeloperoxidase antibody and antiproteinase 3 antibody tests, skin and bone marrow aspirate biopsies, cultures and lumbar punctures. However, the patient had persistently high inflammatory markers. Serology screening for Brucella, Leishmania, Mycoplasma, malaria and Leptospira infections was negative. A bronchoalveolar lavage for tuberculosis resulted in a negative acid-fast bacilli smear with normal cytology and negative cultures. Virology screening was negative for cytomegalovirus, Epstein-Barr virus and acute hepatitis infections. Virology screening of nasopharyngeal aspirate was negative for influenza A and B viruses and subtype A H1N1 as well as enteroviruses, Coxsackieviruses, human immunodeficiency virus and Coxiella burnetii bacteria. The patient was treated with several combinations of antibiotics, including ceftriaxone and piperacillin/ tazobactam, vancomycin and meropenem, vancomycin and erythromycin as well as ciprofloxacin and gentamicin. However, he did not respond to these treatments. At this point, his fever had persisted for 35 days. A funduscopic letter to the editor Sultan Qaboos University Med J, November 2016, Vol. 16, Iss. 4, pp. e529–530, Epub. 30 Nov 16 Submitted 4 Jul 16 Revision Req. 4 Aug 16; Revision Recd. 18 Aug 16 Accepted 25 Aug 16 doi: 10.18295/squmj.2016.16.04.025

Quiz Page November 2015

CLINICAL PRESENTATION A 9-year-old boy known to have tuberous sclerosis complex (TSC) presented with gross hematuria. Three years earlier, a screening kidney ultrasound showed a left simple renal cyst and bilateral increased echogenicity of the corticomedullary regions. The child had no history of trauma, bleeding tendency, or other urinary symptoms. He was not taking any medications. His medical history is notable for retinal phakomas, cardiac rhabdomyoma, subependymal giant cell astrocytomas, and seizure disorder, as well as learning disabilities. Despite a family history of TSC in the mother and an elder sibling, no family member had kidney disease. On examination, the patient was afebrile with normal pulse and blood pressure. Abdominal examination findings were unremarkable, with no organomegaly. Laboratory investigation results were within the normal ranges, with serum creatinine level of 0.38 mg/dL (corresponding to estimated glomerular filtration rate of 135 mL/min/1.73 m as calculated by the Schwartz equation). Hemoglobin level was 11.8 g/dL; platelet count, 321 310/mL, and international normalized ratio, 1. Urinalysis showed albumin (11) and 4 squamous epithelial cells per high-power field (HPF), 12 white blood cells/HPF, and .60 red blood cells/HPF. Abdominal ultrasound and computed tomographic scan were obtained (Fig 1), and a left total nephrectomy was performed (Fig 2).

Hematuria in a Child With Tuberous Sclerosis

CLINICAL PRESENTATION A 9-year-old boy known to have tuberous sclerosis complex (TSC) presented with gross hematuria. Three years earlier, a screening kidney ultrasound showed a left simple renal cyst and bilateral increased echogenicity of the corticomedullary regions. The child had no history of trauma, bleeding tendency, or other urinary symptoms. He was not taking any medications. His medical history is notable for retinal phakomas, cardiac rhabdomyoma, subependymal giant cell astrocytomas, and seizure disorder, as well as learning disabilities. Despite a family history of TSC in the mother and an elder sibling, no family member had kidney disease. On examination, the patient was afebrile with normal pulse and blood pressure. Abdominal examination findings were unremarkable, with no organomegaly. Laboratory investigation results were within the normal ranges, with serum creatinine level of 0.38 mg/dL (corresponding to estimated glomerular filtration rate of 135 mL/min/1.73 m as calculated by the Schwartz equation). Hemoglobin level was 11.8 g/dL; platelet count, 321 310/mL, and international normalized ratio, 1. Urinalysis showed albumin (11) and 4 squamous epithelial cells per high-power field (HPF), 12 white blood cells/HPF, and .60 red blood cells/HPF. Abdominal ultrasound and computed tomographic scan were obtained (Fig 1), and a left total nephrectomy was performed (Fig 2).