ABSTRACT
Isovaleric Acidemia (IVA) is inherited as an autosomal recessive trait, caused by the deficiency of the enzyme isovaleryl CoA dehydrogenase. It has the prevalence of 1 in 62,500 (in parts of Germany) to 1 in 250,000 live births (in the United States). Acute episodes of metabolic decompensations may occur, which may mimic sepsis, ketosis or shock. Early diagnosis & early initiation of treatment has been reported to correlate with a good neurocognitive outcome. This is case of child presenting in Paediatric emergency department with fever, vomiting, increased respiratory activity and lethargy. Child had GCS score of 8/15, acidotic breathing, hypotonia with hyporeflexia. Sepsis screen, metabolic work up and neuroimaging were all normal except for high anion Gap acidosis with ketosis. So further neurometabolic screening work up was done in view of persistent metabolic acidosis, developmental delay, and bad obstetric history in mother. It revealed increased excretion of isovalerylglycine 1(IVG 1), Isovalerylglycine 2 (IVG2) Lactate, 3-Hydroxypropionate (3HP) and 3-Hydroxybutyrate (3 HB).Serum lactate 358.54 (control 1.1-208.1) confirming the diagnosis of Isovaleric Acidemia. After recovery from the acute attack, the patient was advised low-protein diet (1.0-1.5 g/kg/24 hrs.) and carnitine (100 mg/kg/24 hrs. orally) supplements. On follow up child is asymptomatic & showing neurological improvement as he started achieving further developmental milestones during 6 months follow up.Early diagnosis and early treatment of IVA cases definitely results in favorable outcome and better prognosis. But chronic intermittent cases presenting late should not be neglected, proper medical management can reverse neuromotor consequences in them also.
ABSTRACT
Intrauterine thrombosis with extremity ischemia presenting at birth in a newborn is a rare event. A 29 year old mother, 2nd gravida with one first trimester spontaneous abortion delivered a 33week gestation male preterm baby. On Examination, the entire left upper limb was ischemic and edematous with an absent flow on Doppler USG. Low molecular weight heparin (LMWH) was started after which gradually the limb turned pink with good volume pulsations. Thrombophilia mutation studies revealed the heterozygous state for the MTHFR (C677T) mutation only in the mother. Prompt diagnosis and early treatment has a favourable outcome in cases of intra-uterine thrombo-embolism.
ABSTRACT
Background: Parents feel very stressed when their child is sick and in Intensive care unit. Objectives of study were to identify common parental stressors during their child's critical illness and to examine its relationship with demographic variables.Methods: It's a Cross-sectional questionnaire based study done in PICU & NICU of a tertiary care medical college hospital in Mumbai, 62 parents of children admitted to PICU and NICU for at least 24 hours were interviewed using the Parental Stress Scale. The demographic variables were also recorded.The data analyzed using Cluster Analysis, Kruskal Wallis test, Chi- square test and spearman correlation.Results: The main cause of parental stress was to witness the child's sufferings (unresponsiveness/pain, procedures, tubes, monitors around child) (median of standardized score = 3.9, IQR = 0.5, p <0.005). The median of standardised stress score due to hospital environmental factors (monitor alarms, nurses, doctors around baby, other sick children) was 3.7 (IQR = 0.5) and that due to lack of intimacy with child was 3.6 (IQR =0.4). Age of parent inversely correlated with the level of stress (r = -0.638) and parents of infants were more stressed (p = 0.005). Number of children, socioeconomic status didn't affect the stress levels.Conclusions: Young parents and parents of infants were more stressful. Socioeconomic status, residential area and parental sex didn't affect stress. Few stress factors need remedial steps to meet parental needs. The clinician's awareness about these stressors, may help to provide optimized family-directed care.