APRT deficiency: the need for early diagnosis

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2,8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. This report describes a 55-year-old previously fit man who presented with shortness of breath and the investigative pathway that eventually led to a diagnosis of APRT deficiency. Early diagnosis has aided in timely institution of allopurinol, thereby improving his renal function and possibility of weaning off renal replacement therapy. Genetic testing has enabled early identification of other family members at risk and prevention of renal failure by commencing xanthine oxidoreductase (XOR) inhibitors. The issues surrounding kidney donation by a member of this family are also discussed. This case represents the importance of awareness and recognition of the signs and symptoms of this rare condition, complications of which can be easily prevented by early institution of XOR inhibitor therapy.

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Congenital hypoplasia of depressor anguli oris muscle (CHDAOM): an uncommon cause of asymmetric crying facies in childhood

Description 

A 2-year-old developmentally normal girl presented to us with a history of deviation of angle of mouth to right only during crying, persisting from neonatal period. She was born at term by normal vaginal delivery to a primigravida mother with a birth weight of 2.2 kg and smooth perinatal transition. Parents noticed asymmetry of face from neonatal period visible only during crying, which disappeared when she was consoled, without any drooling, regurgitation of feeds or poor sucking. There is no history suggestive of any other neurological or systemic abnormality in index case or in family.

Local examination revealed thinning of lower lip near left angle of mouth on palpation. There was no facial asymmetry while the child was calm (figure 1A), however, on crying there was deviation of the angle of mouth downwards and towards right side (figure 1B). There was no evidence of hypoplasia...

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Perspectives on Dexmedetomidine Use for Neurosurgical Patients

The α2-adrenergic receptor agonist dexmedetomidine has sedative, anxiolytic, analgesic, and sympatholytic effects. The potential advantages of neuroprotection, minimal impact on neuronal function, stable hemodynamics, opioid and anesthesia sparing effects, and minimal respiratory depression during awake procedures render it an effective anesthetic adjuvant in various neurosurgical settings. However, both the benefits and drawbacks of the use dexmedetomidine in neuroanesthesia should be considered. This narrative review will summarize the applications of dexmedetomidine in various neurosurgical settings, highlighting evidence regarding both its common and controversial uses. Supported by Beijing Municipal Administration of Hospitals' Youth Program (QML20160503) and by the National Natural Science Foundation of China (Grant No.1701038). The authors have no funding or conflicts of interest to disclose. Address correspondence to: Adrian W. Gelb, MB, ChB, Department of Anesthesia & Perioperative Care, University of California San Francisco, 500 Parnassus Ave., MUE 408, San Francisco, CA 94143 (e-mail: adrian.gelb@ucsf.edu). Received March 27, 2018 Accepted September 6, 2018 Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved

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Sinking Skin Flap Syndrome: Phenomenon of Neurological Deterioration after Decompressive Craniectomy

Sinking skin flap syndrome is rare phenomenon that occurs in patients with large craniectomies. Alteration in normal anatomy and pathophysiology can result in wide variety of symptoms including altered mental status, hemodynamic instability, and dysautonomias. Management is largely conservative. We here present a case of a patient with large craniectomy who was admitted to our hospital with pneumonia. Later on, he developed worsening mental status and CT head revealed sinking skin flap with significant midline shift. This is a very rare case of neurological deterioration after craniectomies, commonly known as sinking skin flap syndrome. To our knowledge, only few cases have been reported so far.

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Lingual cavernous hemangioma in a Nepalese boy—‘A Difficult Associate!!!’

Abstract

Hemangiomas are benign tumors comprising of ectatic blood vessels. Although common in the head and neck region, those occurring within the oral cavity and tongue are exceedingly rare. We report a 5-year-old boy with a swelling over the anterior third of tongue post failed conservative therapy eventually treated with surgical excision and confirmed histologically as a cavernous hemangioma probably first of its kind reported from Nepal.

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