Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1.

Syndrome of inappropriate antidiuretic hormone (SIADH) secretion is a recognisable complication of acute porphyria. We report a nine-year-old female patient with hereditary tyrosinaemia type 1 and poor adherence to nitisinone therapy who presented with acute abdominal pain, vomiting and lethargy at Sultan Qaboos University Hospital, Muscat, Oman in 2016. She subsequently developed generalised tonic-clonic seizures attributable to severe hyponatremia that met the diagnostic criteria of SIADH. The acute porphyria screen also appeared positive. The patient responded well to fluid restriction and was discharged home without immediate neurological sequelae. Although acute porphyria is also a recognised complication of uncontrolled tyrosinaemia type 1, to the best of the authors' knowledge, no patient with tyrosinaemia type 1 has been reported to present with SIADH.

Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.

INTRODUCTION: Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal-recessive disorder characterized by selective vitamin B12 malabsorption, megaloblastic anemia, and proteinuria. The precise incidence of this disorder is unknown in the Middle East and Arab countries. The disease is caused by a homozygous variant in either AMN or CUBN genes. In addition, some compound heterozygous variants are reported. METHODS: Clinical and laboratory data of patients diagnosed with IGS in Oman were retrospectively collected. Mutation analysis for all genes involved in vitamin B12/folic acid metabolism and megaloblastic anemia was conducted using next-generation sequencing (NGS). RESULTS: Three siblings (2 girls and a boy) have been diagnosed with the condition. They exhibit a phenotypic variability with different age of presentation and different spectrum of disease. All patients harbor a novel biallelic frameshift mutation in exon 11 of AMN gene (p.Pro409Glyfs*), which was not reported previously in the literature. Both parents are heterozygotes for the same variant. All patients responded well to vitamin B12 parenteral therapy, but proteinuria persisted. CONCLUSION: In communities with high incidence of consanguinity, cases of early-onset vitamin B12 deficiency should be thoroughly investigated to explore the possibility of Imerslund-Gräsbeck syndrome and other vitamin B12-related hereditary disorders. Further local and regional studies are highly recommended.

Bilateral hydroureters and hydronephrosis in a neonate.

: A newborn boy was diagnosed antenatally with bilateral hydronephrosis. Postnatal renal ultrasound scan (USS) measured a renal pelvic anteroposterior diameter (APD) of 12 mm on the left side and 7 mm on the right side. The baby had good urine stream. Parents missed the repeat USS at the age of 1 week. An ultrasound done at 4 weeks revealed progressive hydronephrosis, bilateral hydroureters, with increased renal echogenicity. Normal bladder wall thickness was noted but two intravesical lesions were seen (figures 1 and 2). The APD was 13.5 and 11 mm on the left and right side, respectively.edpract;103/1/20/EDPRACT2016311091F1F1EDPRACT2016311091F1Figure 1Renal ultrasound scan of (A) left kidney (LT) and (B) right kidney (RT) showing bilateral hydronephrosis (white arrows) and hydroureters (red arrow). Increased renal echogenicity is not shown in the figure.edpract;103/1/20/EDPRACT2016311091F2F2EDPRACT2016311091F2Figure 2Showing normal bladder wall thickness but two intravesical lesions were seen (white arrows). QUESTION: How would you describe the intravesical lesions in figure 2? Bilateral ureterocelesBilateral vesicoureteral reflux (VUR)Bilateral pelvi-ureteric junction obstructionPosterior urethral valves (PUVs)Which complication(s) may you expect in such cases? Urinary tract infection (UTI)Obstructive voiding symptomsFailure to thriveUreteral calculusAll of the aboveHow would you treat this problem? Endoscopic punctureDeflux surgeryPyeloplastyVesicostomy Answers are on page ▪▪▪.

Amlodipine: The double edged sword.

AIM: Amlodipine, a calcium channel blocker became one of the most popular antihypertensive medications used in the paediatric population. This is mainly due to its long half-life making it easy to use as a single daily dose. Amlodipine is associated with common side effects like flushing, headache and dizziness. The incidence of amlodipine-related oedema was noted to be lower in the paediatric population compared to adults. We emphasise the importance of monitoring the development of oedema in patients treated with amlodipine. METHODS: Hereby, we report four paediatric cases with amlodipine-related generalised oedema. CONCLUSION: Resolution of the oedema with stoppage of amlodipine confirms its culprit as a cause of the oedema. To our knowledge, this is the largest case series of amlodipine-related generalised oedema in the paediatric population.

Nocardia asteroides peritoneal dialysis-related peritonitis: First case in pediatrics, treated with protracted linezolid.

Nocardia asteroides is a rare pathogen in peritoneal dialysis-related peritonitis. We report on a 13-year-old female with Nocardia asteroides peritonitis complicated by an intra-abdominal abscess. Linezolid was administered intravenously for 3 months and followed by oral therapy for an additional 5 months with close monitoring for adverse effects. The patient was discharged after 3 months of hospitalization on hemodialysis. The diagnosis and management of such cases can be problematic due to the slow growth and difficulty of identifying Nocardia species. The optimal duration of treatment for Nocardia peritonitis is not known. Linezolid can be used for prolonged periods in cases of trimethoprim/sulfamethoxazole-resistant cases with close monitoring for adverse effects.

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.

Incidence of antibiotics resistance among uropathogens in Omani children presenting with a single episode of urinary tract infection.

Urinary tract infection (UTI) is one of the most common community-acquired infections. Different organisms can be the cause of UTI in children, with resistance to antibiotics becoming a significant problem in the choice of treatment. Worldwide studies have documented the prevalence of uropathogens in different countries. However, there is no previous study documenting the incidence of different uropathogens in Oman. We aim to report the most common uropathogens and their antibiotic sensitivity patterns in children presenting with documented, single episode UTI at a tertiary hospital in Oman. A retrospective analysis of all Omani children below 14 years who presented with a case of first documented UTI to SQUH between September 2008 and August 2012 was conducted. Data were obtained from the patients' electronic records in the hospital information system. Data were then analyzed using SSPS (Statistical Package for Social Sciences program, Version 20, IBM, Chicago, IL, USA). In the retrospective review of all urine cultures, 438 positive urine cultures were identified. Out of those, 208 (47.5%) belonged to children with their first episode of UTI. Thirty-three patients were excluded and 75 patients were included in the final analysis. Escherichia coli was the most frequently encountered uropathogen in our cohort (69%), followed by Klebsiella pneumoniae infection (17%). Nearly half (46.6%) of these two common organism were resistant to Cotrimoxazole, while 31% of them were resistant to Augmentin. Twenty-four percent of the E. coli and K. pneumoniae strains were resistant to Cefuroxime, and only 10% were resistant to nitrofurantoin. Both Augmentin and Cotrimoxazole should not be the first line antibiotics to treat UTI.

Nephropathic Cystinosis: First reported case in Oman.

Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations. There are three types of cystinosis, infantile nephropathic cystinosis being the most severe form. In this report we present the classic clinical features of nephropathic cystinosis in an Omani child. This condition remains quite rare in the Middle East and is the first reported case of nephropathic cystinosis in the Omani population.

Remission of resistant MPGN type I with mycophenolate mofetil and steroids.

Very few studies have been published on how to treat children with membranoproliferative glomerulonephritis type I (MPGN I), and as yet there is only one report on the use of mycophenolate mofetil (MMF) in children with MPGN I. We report a 12-year-old boy who presented with edema, hypertension, nephrotic range proteinuria, and microscopic hematuria following an upper respiratory tract infection. Laboratory tests revealed a serum creatinine of 90 micromol/l, albumin of 20 g/l, and a C3 of 0.11 g/l (normal range: 0.7-1.4). Renal biopsy showed the presence of MPGN I. Upon failure to induce remission with prednisone, we started the patient on MMF at 500 mg/day (300 mg/m(2)), increasing up to a final dose of 2 g/day (1200 mg/m(2)), with a MMF metabolite mycophenolic acid (MPA) target range of 2-5 mg/l. Prednisone was subsequently reduced to alternate day therapy and gradually weaned to 7.5 mg on alternate days over 9 months. Within 4 months of starting MMF therapy, there was significant improvement in serum creatinine (decrease from 156 to 64 micromol/l), serum albumin (increase from 23 to 40 g/l), and proteinuria (decrease from 13 g/day to 40 mg/day). Twelve months following the introduction of MMF into his therapeutic regimen, he remains in remission with no further relapses. In summary, this case suggests that there may be potential benefit for use of MMF in children with refractory MPGN I, which supports the rationale for prospectively evaluating MMF treatment in a treatment trial of refractory MPGN I.