A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

Barış, Zeren; Özçay, Figen; Olcay, Lale; Ceylaner, Serdar; Sezer, Taner

doi:10.1055/s-0038-1636997

Cited by 5 publications

(6 citation statements)

References 17 publications

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“…Some patients had osteoporosis, enamel dysplasia, or cartilage with metaphyseal dysplasia. Some patients were found to have neurological, learning, and/or behavioral disorders [ 26 ]. Children with SDS can have significant limitations in academic performance, advanced language skills, intellectual reasoning and perception, including reasoning and visual motor skills [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

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Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication

Wang,

Jin,

Chen

et al. 2024

Exp. Biol. Med.

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Shwachman Diamond syndrome (SDS) is a rare autosomal recessive genetic disorder and due to its complex and varied clinical manifestations, diagnosis is often delayed. The purpose of this study was to investigate the clinical manifestations and genetic characteristics of SDS in Chinese patients, in order to increase pediatricians’ awareness of SDS and to allow early diagnosis. We conducted a search to identify patients presenting SBDS gene pathogenic variant in two Chinese academic databases. We analyzed and summarized the epidemiology, clinical features, gene pathogenic variants, and key points in the diagnosis and treatment of SDS. We reviewed the clinical data of 39 children with SDS from previously published articles. The interval from the onset of the first symptoms to diagnosis was very long for most of our patients. The age of presentation ranged from 1 day to 10 years (median: 3 months). However, the age of diagnosis was significantly delayed, ranging from 1 month to 14 years (median: 14 months). Hematological abnormalities were the most common presentation, 89.7% (35/39) at the beginning and 94.9% (37/39) at diagnosis of SDS. Diarrhea was the second most common clinical abnormality at the time of diagnosis. 59% (23/39) of patients had a typical history of persistent chronic diarrhea. Furthermore, hepatic enlargement or elevation of transaminase occurred in 15 cases (38.5%). 56.4% patients (22/39) had a short stature, and 17.9% (7/39) patients showed developmental delay. Additionally, twenty patients had compound heterozygous pathogenic variants of c.258 + 2T > C and c.183_ 184TA > CT. Children with SDS in China had high incidence rates of chronic diarrhea, cytopenia, short stature, and liver damage. Furthermore, SBDS c.258 + 2T > C and c.183_ 184TA > CT were the most common pathogenic variants in patients with SDS. The diagnosis of SDS can be delayed if the clinical phenotype is not recognized by the health care provider.

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Section: Discussionmentioning

confidence: 99%

“…Some patients had osteoporosis, enamel dysplasia, or cartilage with metaphyseal dysplasia. Some patients were found to have neurological, learning, and/or behavioral disorders [26].…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication

Wang,

Jin,

Chen

et al. 2024

Exp. Biol. Med.

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“…[ 24 ] Many children with SDS suffer from neurological, learning, and/or behavioral difficulties. [ 5 ] Studies have found that patients with SDS may have significant barriers to advanced language skills, intellectual reasoning, academic performance, and perception, including reasoning and visual motor skills. [ 30 ]…”

Section: Discussionmentioning

confidence: 99%

Shwachman-diamond syndrome

Tan

Zhuo

2021

Medicine

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Rationale: The aim of this study was to analyze the genetic abnormalities and clinical manifestations of Shwachman-Diamond syndrome (SDS). Patient concerns: A Chinese infant with elevated transaminase and a novel mutation at of sbdsc.258 +2T>C and c.184a>Tc.292G>A. Diagnoses: The female patient was 5 months’ old at onset, with elevated transaminase as the first manifestation accompanied by restricted growth and development and oily stool. After sequencing the blood samples from patients and their parents, the heterozygous mutations of sbdsc.258 +2T>C and c.184a>T were detected. Interventions: After admission, the patient was provided compound glycyrrhizin, Newtide formula milk supplemented with probiotics, fat-soluble vitamins, oral medication to adjust the spleen and stomach, and other symptomatic treatments. Outcomes: The stool traits improved, and the levels of liver function transaminases decreased compared with before. Lessons: SDS is a rare disease with a variety of clinical manifestations. Pancreatic exocrine dysfunction, blood system manifestations, and bone abnormalities are common clinical manifestations, and genetic testing is helpful for diagnosis.

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“…У представленной пациентки были легкие гепатомегалия и повышение уровня трансаминаз. Хотя эти нарушения со временем разрешаются, они могут затруднить дифференциальную диагностику [10]. Нейтропения может быть важным ключом к постановке диагноза, особенно когда другие отличительные особенности заболевания не выявлены [10].…”

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“…Хотя эти нарушения со временем разрешаются, они могут затруднить дифференциальную диагностику [10]. Нейтропения может быть важным ключом к постановке диагноза, особенно когда другие отличительные особенности заболевания не выявлены [10]. Нейтропения служит наиболее частым гематологическим расстройством, встречающимся у 88-100% пациентов [11].…”

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Shwachman–Diamond Syndrome

Сабирова

Шакирова²,

Ramazanova³

2021

Ross. vestn. perinatol. pediatr.

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This article describes a clinical case of a rare Schwachman–Diamond syndrome. It covers the features of the clinical picture of the disease and the laboratory examinations. A multidisciplinary approach for the purpose of early diagnosis, timely initiation of complex treatment, including nutritional therapy, prescription of enzyme preparations and granulocyte colony-stimulating factor, makes it possible to improve the quality of life and prognosis in such patients.

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A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

Cited by 5 publications

References 17 publications

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication

Shwachman-diamond syndrome

Shwachman–Diamond Syndrome

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