Status epilepticus as the only presentation of the neonatal Bartter syndrome

Patra, Soumya; Konar, Mithun Chandra; Basu, Rajarshi; Khaowas, Ajoy Kumar; Dutta, Soumyadeep; Sarkar, Debanjali

doi:10.4103/2230-8210.93775

Cited by 3 publications

(2 citation statements)

References 8 publications

(12 reference statements)

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“…The patient had severe hyponatremia, which presented as seizures. However, the patient did not have any typical clinical manifestations like facial failure to thrive, dysmorphism or any polyuria history, vomiting or other suggestive features (8). Seizure in our case was due to hypocalcemia.…”

Section: Discussionmentioning

confidence: 81%

Bartter’s syndrome type 5; a case report

Yousefichijan¹,

Dorreh²,

Zamenjany³

2017

J Renal Inj Prev

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Section: Discussionmentioning

confidence: 81%

Bartter’s syndrome type 5; a case report

Yousefichijan¹,

Dorreh²,

Zamenjany³

2017

J Renal Inj Prev

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“…In another case reported by Akuma et al [ 14 ], the constant deterioration of lung function led to the patient’s demise. In a case by Soumya et al [ 48 ], the patient succumbed to aspiration pneumonia, leading to his eventual death.…”

Section: Discussionmentioning

confidence: 99%

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

Qasba,

Bucharles,

Piccoli

et al. 2023

Medicina

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Background and Objectives: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. Materials and Methods: Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. Results: Overall, 118 patients, 48 case reports, and 9 case series (n = 70) were identified. Out of these, the majority of patients were male (n = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III (n = 59), followed by Type II (n = 19), Type I (n = 14), Type IV (n = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. Conclusions: Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.

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The Price of a 15-Year Delay in Diagnosis of Sheehan's Syndrome

Parikh¹,

Buch²,

Makwana³

et al. 2016

Baylor University Medical Center Proceedings

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We describe a case of a 48-year-old woman who presented with a 15-year history of recurrent episodes of hypoglycemia and hyponatremia leading to altered behavior and generalized seizures. She underwent full clinical assessment, endocrine tests, and a pituitary magnetic resonance scan that showed pananterior hypopituitarism secondary to postpartum pituitary necrosis (Sheehan's syndrome). She was commenced on appropriate hormone replacement therapy, which led to significant improvement in lethargy, anorexia, muscle weakness, and episodes of hypoglycemia. In addition to the alleviation of her physical symptoms, she experienced a significant improvement in her psychological well-being and reduction in hospital visits. This case illustrates the impact of delay in diagnosis of an easily treatable medical condition and its socioeconomic implications, especially for the population of a developing country like India.

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Status epilepticus as the only presentation of the neonatal Bartter syndrome

Cited by 3 publications

References 8 publications

Bartter’s syndrome type 5; a case report

Bartter’s syndrome type 5; a case report

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

The Price of a 15-Year Delay in Diagnosis of Sheehan's Syndrome

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