Hereditary Neurometabolic Causes of Infantile Spasms in 80 Children Presenting to a Tertiary Care Center

Alrifai, Muhammad Talal; Alshaya, Mohammed; Abulaban, Ahmad; Alfadhel, Majid

doi:10.1016/j.pediatrneurol.2014.05.015

Cited by 23 publications

(25 citation statements)

References 44 publications

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“…Altı buçuk aylıkken West sendromu tanısı aldı. Hipoglisemik beyin hasarının West sendromuna neden olabileceği literatürde bildirilmektedir, ancak mekanizması tam olarak bilinmemektedir (8)(9)(10). Operasyondan 5 ay sonra da pankreatektomiye bağlı portal ven trombozu ve özofagus varisleri gelişti.…”

Section: Discussionunclassified

Treatment and Follow-up in a Case with Diazoxide Treatment-Resistant Hyperinsulinemic Hypoglycaemia

Gökşen¹,

Murat²,

Köroğlu³

et al. 2017

jpr

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GirişHiperinsülinemik hipoglisemi (HH), pankreatik β hücrelerinde kan glukozundan bağımsız olarak düzensiz insülin salınımına bağlı gelişir ve tekrarlayıcı hipoglisemiye neden olur (1,2). Yenidoğan ve süt çocuklarında ısrarlı hipogliseminin en sık sebebidir (2-4). Sporadik ve genetik nedenli HH nadir görülürken (insidansı 1/40000) akraba evliliği sık görülen yerlerde insidans 1/2500'e kadar çıkabilir (2). Hipoglisemi anında alınan kan örneklerinde hipoglisemiyle uygunsuz olarak serum insülin değeri saptanabilir düzeydedir. Tedavide temel amaç hipogliseminin kalıcı nörolojik sekel riskinden korunmak için normoglisemiyi sürdürmektir. HH'de normoglisemiyi sağlamak için yüksek dozda glukoz infüzyonu (>8 mg/kg/dk) gerekir, ancak düzensiz insülin salınımı nedeniyle tedavi oldukça karmaşıktır (1,2). Tedavi medikal, medikal tedaviye yanıtsız olanlarda da pankreatektomidir. Cerrahi sonrasında kür olabilir, HH devam edebilir veya cerrahiye ait komplikasyonlar gelişebilir.Burada, medikal tedaviye dirençli olması nedeniyle totale yakın pankreatektomi yapılan, ancak sonrasında Öz ABS TRACT Hiperinsülinemik hipoglisemi (HH) yenidoğan ve süt çocuklarında dirençli ve tekrarlayan hipogliseminin en sık görülen ve en zor yönetilen nedenidir. Burada yaşamının 1. gününde HH tanısı alan ve izlemde diazoksit yanıtsız olması nedeniyle totale yakın pankreatektomi uygulanan bir olgu sunuldu. Olguda, erken tanı ve müdahaleye rağmen, hipoglisemi ve cerrahiye ait komplikasyon gelişti. Anahtar Kelimeler: Hiperinsülinemik hipoglisemi, pankreatektomi, West sendromu Hyperinsulinemic hypoglycemia (HH) is the most common reason for persistent and recurrent hypoglycemia in the neonatal and infancy periods. We presented a case diagnosed with HH on the first day of life and who underwent near-total pancreatectomy because of the unresponsiveness to the diazoxide treatment. Despite early diagnosis and management, complications developed due to hypoglycemia and surgery.

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Section: Discussionunclassified

Treatment and Follow-up in a Case with Diazoxide Treatment-Resistant Hyperinsulinemic Hypoglycaemia

Gökşen¹,

Murat²,

Köroğlu³

et al. 2017

jpr

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“…In a Chinese cohort of 60 patients with IS, metabolic disorders were found in 47%, among whom 22% had inborn errors of metabolism . In a retrospective study from Saudi Arabia consisting of 80 patients with IS, hereditary neurometabolic disorders were diagnosed in 12.5%, although the high rate of consanguinity (75% among IS patients with metabolic disorders) may have contributed to the high incidence in this population . In a larger U.S. cohort (251 infants with IS), metabolic etiologies were identified in 4.8% .…”

Section: Metabolic Etiologies In Ismentioning

confidence: 96%

“…Leigh and Leigh‐like syndromes presenting with IS/WS were described in several patients due to PDHC mutations (Table ). Of interest, Tsuji et al .…”

Section: Metabolic Errors In Organellesmentioning

confidence: 99%

Metabolic etiologies in West syndrome

2018

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SummaryWest syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS. These may include metabolic errors in organic molecules involved in amino acid and glucose metabolism, fatty acid oxidation, metal metabolism, pyridoxine deficiency or dependency, or acidurias in organelles such as mitochondria and lysosomes. We discuss the biochemical, clinical, and EEG features of these disorders as well as the evidence of how they may be implicated in the pathogenesis and treatment of WS. The early recognition of these etiologies in some cases may permit early interventions that may improve the course of the disease.

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“…Abnormal patterns of brain development affecting frontoparietotemporal regions, as assessed by MRI, were evident in children with JME and included attenuation of agerelated decline in cortical volume, thickness, and surface area. Children with JME have abnormal structural brain development and impaired cognitive development early in the course of the epilepsy [1]. …”

Section: Seizure Disorders Motor Co-activation Of Juvenile Myoclonic mentioning

confidence: 99%

“…COMMENTARY. In patients suspected of having a hereditary metabolic cause for infantile spasms, the authors recommend a more liberal application of advanced diagnostic techniques, such as whole exome sequencing, muscle biopsy for mitochondria biochemical and genetic studies, and newer neuroimaging techniques such as 3 Tesla MRI and PET scanning [1]. More extensive genetic testing is justified in higher risk populations where high consanguinity rates are prevalent.…”

Section: Neurometabolic Causes Of Infantile Spasmsmentioning

confidence: 99%

Motor Co-Activation of Juvenile Myoclonic Epilepsy in Siblings

Millichap¹

2014

Pediatr Neurol Briefs

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Hereditary Neurometabolic Causes of Infantile Spasms in 80 Children Presenting to a Tertiary Care Center

Cited by 23 publications

References 44 publications

Treatment and Follow-up in a Case with Diazoxide Treatment-Resistant Hyperinsulinemic Hypoglycaemia

Treatment and Follow-up in a Case with Diazoxide Treatment-Resistant Hyperinsulinemic Hypoglycaemia

Metabolic etiologies in West syndrome

Motor Co-Activation of Juvenile Myoclonic Epilepsy in Siblings

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