Abeer Alassaf

Mondini Malformation Associated With Diastematomyelia and Presenting With Recurrent Meningitis

The authors report the case of 5-year-old girl who presented with 4 episodes of recurrent meningitis. Her initial workup revealed a lumbosacral dermoid sinus associated with diastematomyelia and a tethered cord. Therefore, a surgical repair to correct the anomaly was performed. However, another episode of meningitis occurred after surgery, and a subsequent temporal bone scan revealed the presence of left Mondini dysplasia. To the authors’ knowledge, this is the first report of Mondini dysplasia in association with diastematomyelia.

Donohue syndrome: a new case with a new complication.

Abstract Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million live births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor gene. DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis nigricans, hypertrichosis, and dysmorphic features. Glucose homeostasis is affected with hyperinsulinemia, fasting hypoglycemia, and postprandial hyperglycemia. We report a Jordanian patient with genetically proven DS who had the classical physical features, progressive hypertrophic cardiomyopathy, cholestasis, and hyperglycemia, followed by hypoglycemia. In addition, the patient developed polyuria and uremia despite normal creatinine levels, hypernatremia, and hypertension. To our knowledge, these metabolic derangements were not previously reported in patients with DS.

Quantitative CrAssphage real-time PCR assay derived from data of multiple geographically distant populations

After its computational inference from human stool metagenomes, the CrAssphage has proven to be the most prevalent phage in the human gut, with presumably very wide geographic distribution. The currently available molecular assays do not sufficiently reflect the CrAssphage sequence variability. Here, we report a novel real‐time PCR assay whose primers and probes are derived from data of multiple CrAssphage strains obtained from gut viral metagenomes of European, Asian, and African subjects. This assay can be useful in analyses of putative bacterial host co‐occurence, and in association studies of non‐infectious diseases where the phage may modify the content of gut bacteriomes.

Clinical and biochemical features at diagnosis of type 1 diabetes in patients between 0 and 18 years of age from Jordan

Data regarding type 1 diabetes mellitus (T1D) in Jordan are extremely scarce. We aim to evaluate the clinical and laboratory characteristics at diagnosis of T1D in a group of children from Jordan.

The bacteriome at the onset of type 1 diabetes: A study from four geographically distant African and Asian countries

OBJECTIVES Gut bacteriome profiling studies in type 1 diabetes (T1D) to date are mostly limited to populations of Europe, with two studies from China and one study each from Mexico and the USA. We therefore sought to characterize the stool bacteriome in children after onset of T1D along with age- and place-matched control subjects from four geographically distant African and Asian countries. METHODS Samples were collected from 73 children and adolescents shortly after T1D onset (Azerbaijan 19, Jordan 20, Nigeria 14, Sudan 20) and 104 matched control subjects of similar age and locale. Genotyping of major T1D susceptibility genes was performed using saliva or blood samples. The bacteriome was profiled by next-generation sequencing of 16S rDNA. Negative binomial regression was used to model associations, with adjustment for the matched structure of the study. RESULTS A significant positive association with T1D was noted for the genus Escherichia (class Gammaproteobacteria, phylum Proteobacteria), whereas Eubacterium and Roseburia, two genera of class Clostridia, phylum Firmicutes, were inversely associated with T1D. We also confirmed a previously observed inverse association with Clostridium clusters IV or XIVa. No associations were noted for richness, evenness, or enterotypes. CONCLUSIONS Based on our results, some type of distortion of the gut bacteriome appears to be a global feature of T1D, and our findings for four distant populations add new candidates to the existing list of bacteria. It remains to be established whether the observed associations are markers or causative factors.

Pseudohypoaldosteronism Secondary to High Output Ileostomy: A Unique Report in an Infant

Salt-losing crisis in an infant should warrant extensive work up. Pseudohypoaldosteronism is a rare condition which is characterized by hyponatremia, hyperkalemia, metabolic acidosis and is associated with high levels of plasma aldosterone. It can be primary or secondary. We report a case of an infant presented with salt-losing crisis and was found to have pseudohypoaldosteronism secondary to excessive losses through ileostomy. This cause of pseudohypoaldosteronism had never been reported previously in children. Additionally, we report an extremely rare association of pseudohypoaldosteronism with thrombocytosis, which can be used as a useful predictor of impending adrenal crisis.

PSEUDOTUMOR CEREBRI AS A RARE PRESENTATION OF INFANTILE HYPOPHOSPHATASIA: A CASE REPORT

ABSTRACT Objective: We are reporting a case of infantile hypophosphatasia (HPP) in a patient who presented with pseudotumor cerebri (PTC). This is an extremely rare clinical condition to present during infancy, much less secondary to a rare etiology such as HPP. Methods: The clinical, laboratory, radiologic, and genetic findings are presented with a brief review of the literature. Results: A female infant presented with symptoms suggestive of increased intracranial pressure and hypotonia. Her brain magnetic resonance imaging (MRI) and magnetic resonance venography were normal, but her cerebrospinal fluid (CSF) pressure was very high (77 cm). We diagnosed her with PTC. Work up revealed HPP, and genetic analysis revealed a homozygous mutation in c.214A>G (p.I72V). Among only 4 other cases reported in the literature, our case is unique in that it had the highest CSF pressure ever reported with such a rare association; in addition, our patient had the youngest age of presentation. Conclusion: HPP can present ...