A Rare Case of Congenital Nephrogenic Diabetes Insipidus Associated with Aquaporin 2 Gene Mutation and Subsequent Acute Lymphoblastic Leukemia: Impact of Steroids on Kidney Function.

BACKGROUND Nephrogenic diabetes insipidus (NDI) is a rare renal disorder that can be congenital, and is caused by mutations in either aquaporin 2 or arginine vasopressin receptor 2, or it can be secondary to kidney disease or electrolyte imbalance. The clinical signs of NDI include polyuria, compensatory polydipsia, hypernatremic dehydration, and growth retardation without prompt treatment. In this report, we present the case of a patient with congenital NDI who was later diagnosed with acute lymphoblastic leukemia (ALL). With dexamethasone treatment, he had uncontrolled polyuria and polydipsia. Our aim was to concentrate on the impact of steroids on the kidneys. CASE REPORT Our patient presented at the age of 9 months with signs of severe dehydration that were associated with polyuria. His laboratory examinations revealed hypernatremia and decreased urine osmolality. He was diagnosed with NDI and his exome sequence revealed a homozygous mutation at the nucleotide position AQP2 NM_000486.6: c.374C>T (p.Thr125Met). He was treated with hydrochlorothiazide and amiloride. Then, at age 19 months, he presented with gastroenteritis and a complete blood count (CBC) showed high white blood cell count and blast cells. He was diagnosed with (ALL) and began receiving chemotherapy, during which again developed polydipsia and polyuria, which could not be controlled with an increased dosage of hydrochlorothiazide. CONCLUSIONS We report a rare case of NDI caused by a missense mutation in the aquaporin 2 gene. One year later, the child developed ALL, and treatment with dexamethasone led to an uncompensated state of polydipsia and polyuria.

Clinico-pathological characteristics of eosinophilic esophagitis in Jordanian children.

Introduction: Eosinophilic esophagitis (EoE) is a chronic, immune-mediated disorder manifested by symptoms of impaired esophageal function and hypereosinophilic esophageal inflammation. It is believed that the number of patients being diagnosed globally is increasing. Aim: To describe the frequency and clinicopathological features of EoE in Jordanian children. Material and methods: A retrospective review of all paediatric patients with eosinophilic esophagitis diagnosed and followed up at our paediatric gastroenterology service at King Abdullah University Hospital between January 2015 and January 2020. Results: During the study period, 21 patients were diagnosed with EoE out of 700 diagnostic endoscopic procedures. Only 1 (4.8%) female was diagnosed. The average age at presentation was 9.5 years (age range: 1-16 years). The most common manifestation was solid food dysphagia (15, 71.4%), followed by food impaction and vomiting (11, 52.4% and 6, 28.6%, respectively). Atopy was diagnosed in 10 (47.6%) patients. Four (19.0%) had food allergy, 3 (14.3%) had respiratory allergy, and 3 (14.3%) had combined. Linear furrows and circular rings were the most common endoscopic features - 17 (81.0%) and 10 (47.6%), respectively, while papillary elongation, basal zone hyperplasia, and eosinophilic infiltrate were the most common reported histopathological features. Almost all patients received proton pump inhibitors (19, 90.5%). Steroids were used in 18 (85.7%) patients; local steroids in 11 (52.4%), and oral steroids in 7 (33.3%). Out of the 4 (19%) patients with esophageal strictures, 2 (9.5%) required pneumatic dilatation. Conclusions: Eosinophilic esophagitis is not uncommon in our community. Clinical and histological parameters point to delayed referral and diagnosis. Increasing awareness of this problem will lead to early diagnosis and will decrease complications.

Incidence and Patterns of Congenital Heart Disease Among Jordanian Infants, a Cohort Study From a University Tertiary Center.

Background: Data is limited about the incidence of congenital heart disease in Jordan. The goal of this study is to determine the incidence and patterns of congenital heart diseases (CHD) among Jordanian infants evaluated at King Abdullah University Hospital. Methods: A retrospective chart review was conducted for all infants who had an echocardiogram evaluation in the 3-years period July 2016-June 2019. All included infants had a 2-dimentional echocardiogram with a Doppler vascular study performed by the same cardiologist. Infants with a structural congenital heart disease were included in the analysis. Results: A total of 1,028 infants were evaluated at the cardiology department during the study period. Eight hundred and sixty-five had an abnormal echo finding. Two hundred and ninety-eighth were diagnosed with CHD. The incidence of CHD was 25 per 1000 live births. Fifty one percent were premature infants. The majority of cases were mild CHD. Patent ductus arteriosus was the most common acyanotic lesion followed by ventricular septal defect and atrial septal defect with a prevalence of 44, 25, and 25%, respectively. Cyanotic CHD constituted 6% of all CHD. Tetralogy of Fallott was the most common cyanotic CHD. The main indication for referral was hearing a heart murmur during physical examination. Conclusion: Although the incidence of CHD in our cohort was relatively high, the majority of cases were acyanotic mild CHD with favorable prognosis. A wider population-based study is needed to evaluate the incidence and better understand the patterns and distribution of CHD at a national level.

Multiple Neural Tube Defects: A Case Report.

BACKGROUND Incomplete closure of the neural tube results in congenital anomalies called neural tube defects (NTD). These defects are rarely multiple, and are characterized by loss of central nervous system soft tissue and bony coverings, along with herniation of the involved part of the CNS through the defect. CASE REPORT A newborn female infant was delivered through planned cesarean section due to large occipital encephalocele diagnosed antenatally. The pregnancy was unplanned and the mother did not take folic acid prior to conception. Birth weight was 3.41 Kg. Upon delivery, the newborn was healthy, with an Apgar score of 8. The physical examination revealed 2 large pouches; one was over the occiput, and the other swelling was located over the nape of the neck. Brain MRI revealed large occipital encephalocele and cervical myelomeningocele. The 2 defects were repaired separately, with an uneventful postoperative course. CONCLUSIONS We report the rare occurrence of multiple NTD. Early repair, either as single or multiple procedures, is mandatory to avoid dramatic complications.