A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate

Yurttutan, Sadık; Öncel, Mehmet Yekta; Yurttutan, Nursel; Değirmencioğlu, Halil; Uraş, Nurdan; Dilmen, Uğur

doi:10.3345/kjp.2015.58.6.230

Cited by 3 publications

(3 citation statements)

References 13 publications

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“…An expression study of the PROC Arg147Trp variant in mammalian cell lines (HEK923) showed that the variant exhibited normal anticoagulant activity to Fva but a ∼3 times lower affinity for binding to endothelial protein C receptor (EPCR); thus the activation of this protein C variant on capillary endothelial cells could be potentially impaired and could contribute to the risk of developing venous thrombosis ( 14 ). Mutation of plasminogen activator inhibitor-1 ( PAI-1 ), another thrombosis-related gene, was previously described in a neonate with NKH and cerebral venosinus thrombosis ( 17 ). The PAI-1 variant was not found in our patient.…”

Section: Discussionmentioning

confidence: 99%

Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

et al. 2023

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Nonketotic hyperglycinemia (NKH) is in most cases a fatal inborn error of metabolism which usually presents during the neonatal period as encephalopathy and refractory seizures. The reported congenital anomalies associated with NKH included corpus callosal agenesis, club foot, cleft palate, and congenital heart disease. Here, we report a newborn who presented with encephalopathy without overt seizures, cerebral venous sinus thrombosis, and cleft palate. Electroencephalography showed a burst suppression pattern, which suggests the etiology could be due to a metabolic or genetic disorder. The amino acid analysis of plasma and cerebrospinal fluid showed elevated glycine. Whole exome sequencing identified a heterozygous c.492C > G; p.Tyr164Ter variant in exon 4 of the GLDC gene inherited from the patient's father. Further long-read whole genome sequencing revealed an exon 1–2 deletion in the GLDC gene inherited from the patient's mother. Additional analyses revealed no pathogenic variants of the cleft palate–related genes. The cleft palate may be an associated congenital anomaly in NKH. Regarding cerebral venous sinus thrombosis, we found a heterozygous variant (p.Arg189Trp) of the PROC gene, which is a common cause of thrombophilia among Thai newborns. A neonate with NKH could present with severe encephalopathy without seizures. A close follow up for clinical changes and further next generation sequencing are crucial for definite diagnosis in neonates with encephalopathy of unclear cause.

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Section: Discussionmentioning

confidence: 99%

Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

et al. 2023

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“…Recent clinical series and review studies have confirmed a female predominance, with a male:female ratio of 1:3 (3,6,10,18). Female gender represents a predisposing factor for the development of CVST due to: (i) estrogen imbalance, which may be induced by oral contraceptives, pregnancy, or puerperium (10,19); (ii) a congenital hypercoagulable state, including protein C or protein S deficiency, and anti-thrombin III or V factor resistance; and (iii) a hypercoagulable state caused by other diseases, including malignant tumors, infections, nephrotic syndrome, polycythemia, leukocytosis, severe anemia, and dehydration (19)(20)(21)(22)(23). In contrast to arterial thrombosis, individuals with CVST typically present with more complicated clinical manifestations.…”

Section: Discussionmentioning

confidence: 99%

Mechanical thrombectomy with Solitaire AB stents for the treatment of intracranial venous sinus thrombosis

Shui

Han

et al. 2016

Acta Radiol

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Background Cerebral venous sinus thrombosis (CVST) is a rare clinicopathological entity with substantial diagnostic and therapeutic dilemmas. The appropriate management of CVST remains to be defined. Purpose To evaluate the efficiency and safety of mechanical thrombectomy with Solitaire AB stents for the treatment of intracranial venous sinus thrombosis. Material and Methods Twenty-three consecutive patients with CVST who were treated with mechanical thrombectomy using Solitaire AB stents between January 2013 and October 2014 were retrospectively analyzed. The headache intensity was evaluated according to the visual analogue scale (VAS), and neurological function was assessed using the National Institute of Health Stroke Scale (NIHSS). Follow-up data were available for all patients for 6-14 months. Magnetic resonance imaging (MRI) and magnetic resonance venography (MRV) were performed at 3 and 6 months after neurointervention, and telephone interviews were performed monthly thereafter. The Wilcoxon signed-rank test was used to compare the evaluation data (VAS and NIHSS) at admission and discharge. Results Twenty-six Solitaire AB stents were used. No neurointervention-related complications were noted. The symptoms were significantly improved after neurointervention in all patients. The comparisons between the VAS and NIHSS evaluations at admission and discharge were significantly different ( P < 0.05). No recurrence was observed during the follow-up period. Conclusion Mechanical thrombectomy with Solitaire AB stents is safe and effective for the treatment of CVST and can significantly improve clinical symptoms. The occurrence of complications is low, and the prognosis is favorable.

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“…Glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH) represents a disorder characterized by elevated concentrations of glycine in all body tissues, especially in plasma and cerebrospinal fluids (1)(2)(3). NKH is caused by deficiency in the glycine cleavage system (GCS).…”

Section: Introductionmentioning

confidence: 99%

An Infant With Non-Ketotic Hyperglycemia: A Case Report

Danaei

Nooripour

2016

Middle East J Rehabil Health

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Introduction: Glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH) represents a disorder characterized by elevated concentrations of glycine in all body tissues, especially in plasma and cerebrospinal fluids (CSF). NKH is caused by deficiency in the glycine cleavage system (GCS). Most glycine encephalopathy cases occur during the neonatal period. The current report presents a case of NKH neonatal intractable seizures. Evaluating a sick neonate who presents with hypotonia, encephalopathy, and seizures is a diagnostic challenge; a high index of suspicion for timely diagnosis and treatment could prevent severe complications. Case Presentation: The patient was a four-day-old baby girl in Iran admitted to the hospital due to hypotonia, lethargy and seizures. On the third day after discharge, the baby gradually lost the ability to suck milk and got sleepy and finally suffered from organ jump and seizures. Sepsis and antibiotics phenytoin tests were conducted and in metabolic testing, high level of glycine in blood and urine was reported and the patient was treated with sodium benzoate dextromethorphan and L-carnitine, after the start of the treatment, seizures and neurologic symptoms and alertness of the baby improved. The patient was discharged by continuing treatment after two weeks with seizure control, improved sucking reflexes and grasp. Conclusions: Since most of the symptoms of metabolic diseases in newborns are same as the signs of sepsis or other common diseases of this period, and also early diagnosis and treatment of these illnesses, especially in diseases such as hyperglycemia, can be influential in neural function of babies, it calls for serious attention and clinical vision of the doctors to stop mortality caused by such diseases by early consideration of serious complications.

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A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate

Cited by 3 publications

References 13 publications

Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

Mechanical thrombectomy with Solitaire AB stents for the treatment of intracranial venous sinus thrombosis

An Infant With Non-Ketotic Hyperglycemia: A Case Report

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