A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2).

A pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. We present a 4-day-old female patient with jaundice, abnormal movement, and convulsions who was found to be homozygous for the missense USP18 gene mutation that causes pseudo-TORCH syndrome 2 (PTORCH2). The patient was managed with conservative measures.

Intrauterine Limb Ischemia in Patient Heterozygous for the 677C>T) RS1801133 (Polymorphism of Methylenetetrahydrofolate Reductase MTHR Gene.

Background: Intrauterine arterial thrombosis is extremely rare. Multiple inherited coagulopathies were found to be associated with thrombophilia and an increased risk of intrauterine arterial thrombosis. Methylenetetrahydrofolate reductase MTHFR (C667T) polymorphism was found to be associated with mild hyper-homocysteinemia, which, in turn, can promote thrombotic complications. Materials and Methods: We reported a case of intrauterine upper limb ischemia in a neonate who was found to be heterozygous for the 677C > T polymorphism of the MTHFR gene despite the dispute regarding its clinical significance as a risk of arterial thrombosis. We also reviewed the literature and summarized the clinical features, treatment, and prognosis of similar cases. Case Presentation. We reported a full-term female, born by normal spontaneous vaginal delivery who was found to have a swollen, blue left upper limb in the delivery room. Left upper limb computed tomography angiography (CTA) revealed left subclavian artery thrombosis. Investigations for the risk revealed heterozygosity for the MTHFR (C667T) polymorphism. Left upper limb amputation was done after the failure of medical management. Conclusion: Despite the conflict about whether heterozygosity for MTHFR (C667T) polymorphism increases the risk of arterial thrombosis or not, there are few cases in the literature presented with intrauterine upper limb ischemia and were found to be heterozygous for the mutation. We recommend investigating neonates and their parents for complete thrombophilia mutations when they present with unusual vascular occlusion sites as newborns.

Acute benign pleural effusion, a rare presentation of hepatitis A virus: a case report and review of the literature.

INTRODUCTION: Hepatitis A virus infections are mostly asymptomatic or mildly symptomatic, and generally this disease has a benign course and resolves spontaneously. However, intrahepatic and rarer extrahepatic manifestations can complicate typical cases of acute hepatitis. Pleural effusion is an extremely rare extrahepatic entity with 20 cases reported in literature. CASE PRESENTATION: We report herein a recent case of both pleural effusion and ascites accompanying hepatitis A infection in a 5-year-old middle eastern child, diagnosed using serological testing and imaging studies, who was treated with supportive management with full resolution after 2 weeks. In addition, we review available literature regarding hepatitis A virus associated with pleural effusion using PubMed and summarize all reported cases in a comprehensive table. RESULTS: Literature contains 20 reported cases of serology-confirmed hepatitis A virus presenting with pleural effusion, most in the pediatric population with average age at presentation of 9 years 8 months. The majority of reported patients had right-sided pleural effusion (50%) or bilateral effusion (45%), while only 5% presented with pleural effusion on the left side. Hepatomegaly and ascites occurred concurrently in 80% and 70% respectively. Supportive treatment without invasive procedures (except one chylothorax case) yielded complete recovery in 95% of cases, while only one case progressed to fulminant liver failure followed by death. CONCLUSION: Acute hepatitis A virus rarely presents with pleural effusion, usually following a benign course with spontaneous resolution in most patients. Pleural effusion does not change the prognosis or require any invasive treatment. Thus, further invasive procedures are not recommended and would only complicate this self-resolving benign condition.

Long-Term Mortality and Morbidity Related to Congestive Heart Failure with Reduced Ejection Fraction (CHFrEF) in Palestinian Patients Maintained on Submaximal Sacubitril/Valsartan Doses: A Pilot Study.

BACKGROUND: The efficacy of sacubitril/valsartan, a newly introduced combination drug for heart failure with reduced ejection fraction (HFrEF), was demonstrated in the PARADIGM-HF trial conducted in Western countries. However, these findings need to be verified in the Middle Eastern context, where patients may exhibit a different response due to different environmental and racial factors. OBJECTIVES: The goal of this study was to evaluate the efficacy of submaximal sacubitril/valsartan doses in terms of improving the disease symptoms, as measured by the New York Heart Association (NYHA) classification and left ventricular ejection fraction (LVEF) percentage, as well as establish long-term morbidity and mortality associated with HFrEF among Palestinian patients administered target doses of an angiotensin-converting enzyme inhibitors (ACEI) or angiotensin II receptor blockers (ARBs). Material and Methods. This study involved a retrospective review of charts related to patients with HFrEF maintained on sacubitril/valsartan and was conducted in a referral cardiology clinic in Palestine. The inclusion criteria were age 18+, HFrEF diagnosis, sacubitril/valsartan usage for at least six months during the period between January 1, 2016, and June 30, 2019, and LVEF < 40%. The exclusion criteria included LVEF ≥ 40% and drug administration duration < 6 months. The collected data included NYHA class, as well as LVEF, serum sodium (Na), potassium (K), serum creatinine (Cr), and blood urea nitrogen (BUN) levels and the mortality rate before and after the minimum treatment duration. IBM SPSS STATISTICS for Windows, version 20.0, Armonk, NY: IBM Corp. IBM Corp., released 2012, was used for data analysis, whereby T score was calculated for comparisons between numerical groups, and p < 0.05 was considered statistically significant. RESULTS: The initial study sample comprised of 205 consecutive patients with HFrEF maintained on sacubitril/valsartan for at least six months from January 1, 2016, to June 30, 2019. Three patients were excluded due to attrition, along with further 12 patients with LVEF ≥ 40% (based on the PARADIGM-HF trial criteria). Throughout the treatment period, most patients showed escalating improvement in terms of the LVEF and NYHA classification, as LVEF = 29.8% and NYHA = 3 were obtained on average before initiating sacubitril/valsartan, compared to 41% and 1.7, respectively, after 6-month treatment (p = 0.0003 and 0.046, respectively). These improvements in LVEF and NYHA class were noted across all sacubitril/valsartan doses (50-400 mg). However, 23 patients (12%) died while undergoing sacubitril/valsartan treatment. CONCLUSION: A significant long-term reduction in the mortality and morbidity rates was observed in Palestinian patients with HFrEF maintained on submaximal doses of sacubitril/valsartan.

Familial Mediterranean Fever Complicated by a Triad of Adrenal Crisis: Amyloid Goiter and Cardiac Amyloidosis.

BACKGROUND: FMF is a common disease in the Mediterranean populations and may be complicated by AA amyloidosis. The coexistence of adrenal and thyroid amyloidosis in AA amyloidosis secondary to familial Mediterranean fever (FMF) is an extremely rare reported condition. We presented a previously unreported triad of adrenal, thyroid, and cardiac amyloidosis secondary to FMF. Presentation of Case. We reported a 23-year-old Palestinian male patient presented with hypotension, vomiting, diarrhea, and abdominal pain. The patient was subsequently diagnosed to have an adrenal crisis with both amyloid goiter and cardiac amyloidosis. CONCLUSION: It is crucial to recognize the adrenal crisis in patients with AA amyloidosis secondary to FMF who present similarly to acute FMF inflammatory episodes. The adrenal crisis has high morbidity and mortality, especially if not recognized early in the course of the disease.

Congenital arrhinia: A case report and literature review.

INTRODUCTION: Underdevelopment of the nose is a wide spectrum entity ranges from partial absence of the nose to congenital arrhinia (CA). CA is the congenital absence of the external nose, nasal cavities, and/or nasal nostrils±olfactory apparatus, and is an extremely rare entity as less than 50 cases reported in the literature. CA can be isolated and idiopathic in origin or be a part of genetic-linked certain syndromes. Of note, the isolated CA can be inherited as an autosomal dominant condition with incomplete penetrance. PRESENTATION OF CASE: We report a 13-month-old Palestinian female patient with isolated CA complicated with recurrent lower and upper respiratory tract infections (URTI). The family history is significant for the mother with incomplete and uncomplicated underdevelopment of the external nose and nasal nostrils. The patient uses a tracheostomy to breathe and is waiting for the optimal age for surgical correction. In addition, we reviewed the available literature using PubMed and summarized all CA cases reported from 2016 to 2019 since two studies had presented the literature before 2016, and presented them in a very comprehensive table. DISCUSSION: CA is largely idiopathic and not well understood. Although CA can be inherited and runs in families with incomplete penetrance, no causative genetic abnormalities had been found in most of the reported cases. CA frequently presents with upper airway obstruction and respiratory distress, recurrent lower and URTI, and feeding difficulties. CA is managed initially with tracheostomy and should be followed by a surgical correction at the appropriate age. CONCLUSION: CA may be sporadic, familial, or a part of a syndrome. CA carries a significant rate of morbidity and mortality and a tracheostomy should be inserted initially to alleviate the early CA complications and followed by surgical reconstruction when the patient reaches the age of preschool/school age. More studies are required to determine CA inheritance.

Systemic Lupus Erythematosus with Multiple Autoimmune Disease Presented with Extensive Peripheral Gangrene.

Systemic lupus erythematosus (SLE) is an autoimmune disease and can be associated with other autoimmune diseases. SLE usually presents with skin change and rarely presents with gangrene. SLE gangrene usually involves the digits of upper extremities. We report the first case of SLE associated with an extremely rare constellation of neuromyelitis Optica (NMO) and diabetes mellitus type 1, presented with a rare form of the SLE gangrene which involves bilateral lower extremities up to midlegs, a case that has not yet been reported in the literature. Although SLE gangrene may respond to immunosuppressants, it has a high risk of complications that can end up with amputations.

IVIG and under Burn Unit Care Yield Favorable Outcomes in Pediatric Patients with Toxic Epidermal Necrolysis: A Case Report and Literature Review.

Body reactions to drugs can manifest as Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). TEN is the most severe form of cutaneous reactions with an incidence rate of 1-2 per million cases per year. Despite TEN being a critical and life-threatening condition, there is little to no evidence of clear management protocol. We reported a 5-year-old male child who presented with lamotrigine-induced TEN and was successfully treated with intravenous immune globulin (IVIG) with a burn unit care level, while TEN treatment with IVIG is an appropriate approach with predictable good outcomes, burn unit care is also effective in creating highly favorable effects. Upon reviewing the literature, several studies indicate that TEN patients treated with the combination of IVIG and burn unit care lead to decreased levels of morbidity and mortality than when treated with IVIG or burn unit care alone. Therefore, treatment involving both IVIG and burn unit care should be considered for TEN patients.

Postoperative intestinal intussusception in children, an easily missed culprit of postoperative intestinal obstruction: Case series and literature review.

BACKGROUND: Postoperative intestinal intussusception (POI) is a rare cause of intestinal obstruction with POI after surgical reduction of ileocolic intussusception being an extremely rare variant. POI was reported to follow many abdominal and non-abdominal operations. A late diagnosis can risk ischemia and necrosis. POI also increases the morbidity and mortality, rendering an early diagnosis and prompt management as lifesaving. METHODS: We reviewed the medical charts retrospectively for the last ten years for patients with POI at Palestine Red Crescent Society Hospital, Hebron, Palestine. We reviewed the literature and presented the characteristics of the most reported cases of POI following surgical reduction of ileocolic intussusception. RESULTS: We presented three cases of ileoileal POI and one case of ileocolic POI followed different primary operations. All but one patient presented in the first two weeks. The delayed presentation came two months after revision of a prolapsed colostomy. All patients managed successfully with operative manual reduction with no postoperative complications. Initially, we had struggles in the diagnosis of POI largely due to a low suspicion for this rare entity, but thereafter we kept POI in mind and managed the after-coming cases in an expeditious manner. CONCLUSION: Frequently, POI is misdiagnosed as postoperative adhesive obstruction. POI is challenging in diagnosis and needs a very high index of suspicion, mainly due to its rarity and atypical presentation. By keeping the possibility of POI in mind, one can easily diagnose it and prevent its consequences.