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Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.

ABSTRACT: Pyridox(am)ine 5'-phosphate oxidase deficiency results in an early-onset neonatal encephalopathy that can be fatal if not detected and treated early. The condition is rare, can result in preterm delivery, and can mimic hypoxic ischemic encephalopathy. Thus, suspicion of the diagnosis, appropriate investigations, and therapeutic trials with pyridoxal-5'-phosphate are often delayed. In this paper we report four cases of pyridox(am)ine 5'-phosphate oxidase deficiency, two of whom are siblings. Three were treated with pyridoxal-5'-phosphate in the first few days of life and the fourth within the first month. One of the siblings was electively treated from birth until a diagnosis was secured. Our cases demonstrate that early diagnosis and treatment can be associated with normal neurodevelopment in childhood. We suggest that a low threshold for investigating for pyridox(am)ine 5'-phosphate oxidase deficiency and electively treating with pyridoxal-5'-phosphate is considered in any neonate with encephalopathy, including those with presumed hypoxic ischemic encephalopathy in whom the degree of encephalopathy is not expected from perinatal history, cord gases and/or neuroimaging.

SUBMITTER: Hatch J

PROVIDER: S-EPMC4864713 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.

Hatch J J Coman D D Clayton P P Mills P P Calvert S S Webster R I RI Riney Kate K

JIMD reports 20150825

Pyridox(am)ine 5'-phosphate oxidase deficiency results in an early-onset neonatal encephalopathy that can be fatal if not detected and treated early. The condition is rare, can result in preterm delivery, and can mimic hypoxic ischemic encephalopathy. Thus, suspicion of the diagnosis, appropriate investigations, and therapeutic trials with pyridoxal-5'-phosphate are often delayed. In this paper we report four cases of pyridox(am)ine 5'-phosphate oxidase deficiency, two of whom are siblings. Thre ...[more]

PMID: 26303608

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Project description:BACKGROUND:To report three cases of nontuberculous mycobacterial (NTM) endophthalmitis following multiple ocular surgeries and to review previous literature in order to study the clinical profile, treatment modalities, and visual outcomes among patients with NTM endophthalmitis. METHODS:Clinical manifestation and management of patients with NTM endophthalmitis in the Department of Ophthalmology, Faculty of Medicine, Siriraj hospital, Mahidol University, Bangkok, Thailand were described. In addition, a review of previously reported cases and case series from MEDLINE, EMBASE, and CENTRAL was performed. The clinical information and type of NTM from the previous studies and our cases were summarized. RESULTS:We reported three cases of NTM endophthalmitis caused by M. haemophilum, M. fortuitum and M. abscessus and a summarized review of 112 additional cases previously published. Of 115 patients, there were 101 exogenous endophthalmitis (87.8%) and 14 endogenous endophthalmitis (12.2%). The patients' age ranged from 13 to 89?years with mean of 60.5?±?17.7?years with no gender predominance. Exogenous endophthalmitis occurred in both healthy and immunocompromised hosts, mainly caused by cataract surgery (67.3%). In contrast, almost all endogenous endophthalmitis patients were immunocompromised. Among all patients, previous history of tuberculosis infection was identified in 4 cases (3.5%). Rapid growing NTMs were responsible for exogenous endophthalmitis, while endogenous endophthalmitis were commonly caused by slow growers. Treatment regimens consisted of macrolides, fluoroquinolones or aminoglycosides, which were continued for up to 12?months. Initial and final vision were generally worse than 6/60. CONCLUSIONS:NTM endophthalmitis is a serious intraocular infection that leads to irreversible loss of vision. The presentation can mimic a chronic recurrent or persistent intraocular inflammation. History of multiple intraocular surgeries or immune-deficiency in patient with chronic panuveitis should raise the practioner's suspicion of NTM endophthalmitis. Appropriate diagnosis and treatment are important to optimize visual outcome.

Dataset Information

Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.

Publications

Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.

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