Background Very long-chain acyl-coenzyme-A dehydrogenase deficiency is a rare, severe life-threatening metabolic disorder of mitochondrial fatty acid oxidation, caused by mutations in ACADVL gene. Here we present a genetically confirmed case of a South Asian baby girl with severe, early-onset form of very long-chain acyl-coenzyme-A dehydrogenase deficiency due to a novel mutation in ACADVL gene. Case presentation Index case was the second baby girl of second-degree consanguineous South Asian parents. She had an uncomplicated antenatal period and was born by spontaneous vaginal delivery at term with a birth weight of 2910 g. She had been noted to have fair skin complexion, hypotonia, and 3 cm firm hepatomegaly. Since birth, the baby developed grunting, poor feeding, and recurrent episodes of symptomatic hypoglycemia and convulsions with multiple semiology. Her septic screening and urine ketone bodies were negative. The baby had high anion gap metabolic acidosis and elevated transaminases and serum creatine phosphokinase levels. Echocardiogram at 4 months revealed bilateral ventricular hypertrophy. Acylcarnitine profile revealed elevated concentrations of tetradecanoylcarnitine (C14), tetradecanoylcarnitine C14:1, and C14:1/C16. Unfortunately, the baby died due to intercurrent respiratory illness at 4 months of age. Sequence analysis of ACADVL gene in perimortem blood sample revealed homozygous frame shift novel variant NM_001270447.1, c.711_712del p.(Phe237Leufs*38), which confirmed the diagnosis of very long-chain acyl-coenzyme-A dehydrogenase deficiency. Conclusions This case demonstrates the importance of early diagnosis and management of very long-chain acyl-coenzyme-A dehydrogenase deficiency in improving the outcome of the patients. Implementation of newborn screening using tandem mass spectrometry in Sri Lanka will be beneficial to reduce the morbidity and mortality of treatable disorders of inborn errors.
Background Hypersplenism, one of the major complications of portal hypertension, is traditionally treated by splenectomy. However, partial splenic artery embolization is an evolving minimally invasive intervention to treat these patients effectively. Case presentation A 13-year-old girl was referred for further evaluation of isolated splenomegaly with pancytopenia. She did not have bleeding manifestations or features of anemia. She never had hematemesis or melena. On examination, she was pale. Abdominal examination revealed massive splenomegaly of 10 cm below the costal margin without hepatomegaly. Rest of the examination was unremarkable. Her investigations revealed a white cell count of 1700/mm3 (neutrophils 9.8% and lymphocytes 88.7%), hemoglobin 9.5 g/dL and platelet count 42,000/mm3. Blood picture showed pancytopenia without abnormal cells. Her reticulocyte count was 1.9%. Complete liver profile was normal. Abdominal ultrasonography revealed massive splenomegaly with the oblique length of 17 cm and normal echogenic liver with normal size. Cavernous transformation of portal vein with portal hypertension was evident. Mesenteric angiogram showed portal vein thrombosis and markedly tortuous splenic artery. Anti-nuclear antibodies and double-stranded DNA were negative. Ham test and urine for hemosiderin were negative. Clauss fibrinogen assay was normal. Hemoglobin high performance liquid chromatography for hemoglobin subtypes was normal. Anti-phospholipid antibodies were negative. JAK2 V617F mutation was not identified. Diagnosis of pre hepatic portal hypertension was made. Her upper gastrointestinal endoscopy was normal. Partial splenic artery coil embolization was done by interventional radiology team. Vaccines against capsulated organisms were given. Post-procedure contrast abdominal computed tomography revealed infarction of approximately 70% of the spleen and blood counts were improved. Index case is in the follow up for 3 years. She is on penicillin prophylaxis with regular blood count and annual upper gastrointestinal endoscopy monitoring. Conclusions Minimally invasive interventions such as partial splenic artery embolization should be considered in managing the patients with hypersplenism secondary to portal hypertension.
home, 666 (44.2%) enquiries were made at hospital and 861 (57.1%) were made by a doctor. Most poisonings were accidental (n=593, 39.3%), followed by therapeutic error (n=552, 36.6%) and then intentional overdoses (n=314, 20.8%).Sodium valproate was most commonly implicated (n=351, 22.6%). Carbamazepine enquiries were the most frequently symptomatic (n=156/325, 48.0%), requiring intervention (n=213/325, 65.5%) and scoring above zero on MAXPSS (n=176/325, 54.2%). Overall, 429 enquiries (28.5%) were symptomatic with 593 (38.1%) requiring intervention. Intentional overdoses (n=314) were more likely to be symptomatic (69.1%) and require intervention (78.3%). A higher proportion of interventional poisonings were female patients (80 Male:234 Female). A third of all exposures (n=513, 34.08%) scored above zero out of three on the MAXPSS, with 20.3% (n=306) scoring one, 7.1% (n=107) scoring two and only 4.6% (n=69) scoring three.
amounted to 6.9+2.3 pg/ml at a normal rate -4.3+0.7 pg/ml (p<0.05), but the highest increase was observed in IL1b (10.4 +3.9 pg/ml and 2.05+0.03 pg/ml, respectively, p<0.05), which reflects the increased activity of macrophages involved in maintaining the inflammatory process. Thus, the data obtained demonstrate that the intestinal microvascular endothelium of the intestinal mucosa can respond to locally generated cytokines and produce strong pro-inflammatory mediators. Conclusion Thus, there is clear evidence of intestinal inflammation in children with a mixed form of cystic fibrosis, which can negatively affect the patient's nutritional status, which in turn adversely affects pulmonary function and survival. The data obtained are the basis for optimizing therapy aimed at improving bowel function.
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