An 8-year-old girl presented with history of recurrent urinary tract infection (UTI) along with episodes of urinary and fecal incontinence. Investigations revealed elevated creatinine (1.2 mg/dL, estimated glomerular-filtration rate (eGFR) = 42 mL/min/1.73 m 2 ), bilateral hydronephrotic scarred kidneys with grade IV dilating vesico-ureteric reflux (VUR), and thickened urinary bladder wall. Urodynamic study confirmed a low capacity, high pressure urinary bladder with detrussor over activity. Neurological examination and magnetic resonance imaging of spine was un-remarkable. The diagnosis was clinched on seeing her typical facial expression on being asked to smile ( Fig. 1 and Web Video 1).Ochoa syndrome or Urofacial syndrome (UFS) is characterized by urinary bladder or/and bowel dysfunction along with a characteristic facial expression that is most obvious during smiling or laughing wherein one gets an appearance of a 'grimace' despite an attempt at smiling (resulting from abnormal co-contraction of the corners of the mouth and eyes). It is inherited as autosomal recessive disorder with abnormalities in either of two genes -HPSE2 localized on chromosome 10q23-10q24 or LRIG localized on chromosome 1p13. A heterozygous nonsense variation in exon 4 of the LRIG2 gene (chr1:113636129; C>C/G; Depth: 121x) that results in a stop codon and premature truncation of the protein at codon 153 (p.Ser153Ter; ENST00000361127) was detected in the child by Next Generation Sequencing.Apart from early identification and prompt treatment of urinary tract infection, the cornerstone of management of Ochoa syndrome includes reducing the bladder pressure and ensuring proper bladder drainage. Anticholinergics and á-adrenergic blockers along with clean intermittent catheterization are usually the initial steps. Bladder augmentation (augmentation cystoplasty) along with Mitrofanof (bladder drainage conduit) is often chosen as a long-term management plan. FIG. 1 Characteristic facial expression on asking to smile (See video at website). NOTICE Call for Submission of 'Clinical Videos'Under this section, Indian Pediatrics publishes videos depicting an intricate technique or an interesting clinical manifestation, which are difficult to describe clearly in text or by pictures. A video file submitted for consideration for publication should be of high resolution and should be edited by the author in final publishable format. MPEG or MP4 formats are acceptable. The maximum size of file should be 20 MB. The file should not have been published elsewhere, and will be a copyright of Indian Pediatrics, if published. For this section, there should be a write-up of up to 250 words discussing the condition and its differential diagnoses. The write-up should also be accompanied by a thumbnail image for publication in the print version and PDF. Submit videos as separate Supplementary files with your main manuscript. A maximum of three authors (not more than two from a single department) are permissible for this section. In case the video shows a patient, ...
Myiasis is the invasion of host's tissues by the larval stage (maggot) of non-biting flies. It usually infects domestic and wild animals, but sometimes also affects human and is commonly found in the tropical and subtropical areas. Umbilical myiasis in the neonatal period associated with sepsis is a rare occurrence with few reported cases in the literature. We report a case of a 20-days-old neonate from a rural area of West Bengal, India, presented with neonatal sepsis due to umbilical myiasis caused by larval form of blow fly (Chrysomya megacephala).
Background:Early weight trends after cardiac surgery in infants from low- and middle-income countries where the majority are undernourished have not been defined. We studied the early post-operative weight trends to identify specific factors associated with early weight loss and poor weight gain after discharge following congenital heart surgery in consecutive infants undergoing cardiac surgery at a referral hospital in Southern India.Methods:This was a prospective observational study. Weights of the babies were recorded at different time points during the hospital stay and at 1-month post-discharge. A comprehensive database of pre-operative, operative, and post-operative variables was created and entered into a multivariate logistic regression analysis model to identify factors associated with excessive early weight loss after cardiac surgery, and poor weight gain following hospital discharge.Results:The study enrolled 192 infants (mean age 110.7 ± 99.9 days; weight z scores − 2.5 ± 1.5). There was a small but significant (p < 0.001) decline in weight in the hospital following surgery (1.6% decline (interquartile range −5.3 to +1.7)); however, there was substantial growth following discharge (26.7% increase (interquartile range 15.3–41.8)). The variables associated with post-operative weight loss were cumulative nil-per-oral duration and cardiopulmonary bypass time, while weight gain following discharge was only associated with age.Conclusion:Weight loss is almost universal early after congenital heart surgery and is associated with complex surgery and cumulative nil-per-oral duration. After discharge, weight gain is almost universal and not associated with any of the perioperative variables.
Peripherally inserted central catheters are commonly used for intravascular access in low birth weight neonates. Here, we describe a case of transcatheter retrieval of an embolised peripherally inserted central catheter line in the right ventricle extending to the left pulmonary artery in a preterm very low birth weight baby. To the best of our knowledge, this is the first case where transcatheter retrieval of embolised peripherally inserted central catheter line has been done from the left pulmonary artery in such a very low birth weight preterm neonate. Although retrieval of foreign body is common in adults and older children, very few case reports have documented successful retrieval of embolised peripherally inserted central catheter line in very low birth weight neonates using interventional techniques. Most of the cases in literature reported retrieval of an indwelling umbilical venous catheter rather than a peripherally inserted central catheter line as in our case. Also, none of these cases had the embolised fragment retrieved from the left pulmonary artery. This approach was technically very challenging as we were taking care of a 5-day old preterm neonate born at 32 weeks of gestation having very low birth weight (1100 g) with features of clinical sepsis, coagulopathy, and embolised catheter fragment extending from right ventricle to left pulmonary artery. The procedure was uneventful without any complication and the catheter was retrieved successfully.
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