Pediatric Charcot-Marie-Tooth disease: A case report and diagnostic challenges

Charcot-Marie-Tooth (CMT) disease is a hereditary motor sensory neuropathy affecting about one in 2500 individuals that is characterized by progressive weakness and loss of touch sensation affecting different parts of the body. Despite its significant genetic heterogeneity, CMT is rarely reported in the Indian literature. We report a 10-year-old boy with CMT presented with severe calf pain, bilateral pes cavus deformity, and areflexia. His mother also had similar symptoms, and the diagnosis was confirmed by neuroimaging and nerve conduction studies. This highlights the importance of considering CMT disease in patients with progressive muscle weakness and deformities, especially with a family history of similar symptoms.

A case report of hereditary spherocytosis (HS): Approach to diagnosis and management of HS

Hereditary spherocytosis (HS) is a type of congenital hemolytic anemia, in which heterogeneous alterations in one of the six genes that encode for proteins involved in vertical associations which tie the red blood cell (RBC) membrane skeleton to the lipid bilayer causes dysfunction or deficiency of cell membrane protein resulting in spherical-shaped, hyper-dense, and poorly deformable RBCs with a shortened life span. We report a case of HS in a 2-month-old female who presented with severe anemia, jaundice, and hepatosplenomegaly. The peripheral blood smear showed spherocytosis and reticulocytosis. The osmotic fragility was positive and direct antiglobin test was negative. The osmotic fragility test and direct antiglobulin test were positive. She was managed with packed RBCs (PRBCs) transfusion and folic acid supplementation

Spurious thrombocytopenia in the mother and baby – A red herring clinical entity

Spurious thrombocytopenia or pseudothrombocytopenia (PTCP) is an important clinical entity, in which the presence of autoantibodies or anticoagulants used during blood sampling causes in vitro clumping of platelet and thereby resulting in a falsely low automated platelet count. The most common cause of platelet clumping is ethylenediaminetetraacetic acid used as an anticoagulant in the blood samples. The other reasons for PTCP include the presence of autoantibodies such as cold agglutinin, giant platelet, and platelet satellitism. There are very few cases of spurious thrombocytopenia in the newborn period published in the literature. We are reporting a case of PTCP due to platelet satellitism in a baby born to a mother with a similar condition

Dry lung syndrome: A distinct clinical entity.

Infants with preterm prolonged rupture of membranes can present with immediate onset of pulmonary insufficiency and need aggressive ventilatory support. Dry lung syndrome remains an under-recognised clinical entity and very few cases are reported in the literature, though a working definition has been previously proposed. The proposed underlying etiopathogenesis for this is functional hypoplasia of the lung where higher than usual ventilatory pressure for initial 1-2 days can improve oxygenation. This study presents two cases which had similar antenatal and immediate postnatal course, but had diametrically opposite outcomes. Strategies to optimise outcomes in the setting of early premature rupture of the membranes should include antenatal assessment of mothers with monitoring of the liquor volume as well as the strength of foetal breathing movements, in-utero transfer with delivery in perinatal centres and attendance by neonatal staff of appropriate experience.

Patent ductus arteriosus ligation and post-operative hemodynamic instability: Case report and framework for enhanced neonatal care.

Ligation of a patent ductus arteriosus can lead to severe cardiorespiratory compromise in preterm infants. This report reviews the postoperative course of a patient with significant cardiorespiratory instability following surgical ligation of the patent ductus arteriosus and presents a framework for enhanced cardiovascular care in this population. A preterm infant, born at 24 wk gestation underwent ligation of a large haemodynamically significant ductus arteriosus after failure of 2 courses of indomethacin. He developed systemic hypotension, which was aggressively treated with high doses of multiple cardiotropic agents. After 10 hr of refractory hypotension, the addition of hydrocortisone normalized blood pressure. This article outlines preprocedural categorization of infants according to ductal illness severity which facilitates the risk assignment for postoperative deterioration, development of clinical guidelines specific to the likely haemodynamic changes, enhanced role of functional echocardiography for guiding therapy, and interprofessional education.