A Case of Shwachman-Diamond Syndrome Presenting With Diabetes From Early Infancy

Kamoda, Tomohiro; Saito, Takashi; Kinugasa, Hideyo; Iwasaki, Naoko; Sumazaki, Ryo; Mouri, Youko; Izumi, Isho; Hirano, Takeshi; Matsui, Akira

doi:10.2337/diacare.28.6.1508

Cited by 26 publications

(20 citation statements)

References 8 publications

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“…SDS is occasionally associated with diabetes mellitus [3,4,[17][18][19][20][21][22] . The youngest patient reported to date was a newborn with SDS and transient diabetes [22] . In contrast to patients with cystic fibrosis, SDS patients have a low prevalence of diabetes mellitus [4] .…”

Section: Discussionmentioning

confidence: 99%

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Compound Heterozygous Mutations of the SBDS Gene in a Patient with Shwachman-Diamond Syndrome, Type 1 Diabetes Mellitus and Osteoporosis

Rosendahl¹,

Teich²,

Mössner³

et al. 2006

Pancreatology

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Section: Discussionmentioning

confidence: 99%

“…The occurrence of osteoporosis and diabetes mellitus in patients with SDS has rarely been reported [3,4,[17][18][19][20][21][22] . We here provide a long-term follow-up of a 37-year-old man with SDS, osteoporosis, type 1 diabetes, and a unique genotype.…”

Section: Introductionmentioning

confidence: 99%

Compound Heterozygous Mutations of the SBDS Gene in a Patient with Shwachman-Diamond Syndrome, Type 1 Diabetes Mellitus and Osteoporosis

Rosendahl¹,

Teich²,

Mössner³

et al. 2006

Pancreatology

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“…Furthermore, little is known about imaging features or histopathology of the brain in SDS. A recently published report described a neonate with delayed myelinition on magnetic resonance imaging (MRI) [Kamoda et al, 2005]; another report described an infant with agenesis of the corpus callosum on a CT scan [Todorovic-Guid et al, 2006].…”

Section: Introductionmentioning

confidence: 99%

Shwachman–Diamond syndrome is associated with structural brain alterations on MRI

Toiviainen-Salo

Mäkitie

Mannerkoski

et al. 2008

American J of Med Genetics Pt A

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Shwachman-Diamond syndrome (SDS) is an autosomal recessive condition that results from mutations in the SBDS gene, at chromosome 7q11. Main features include exocrine pancreatic failure, neutropenia and skeletal dysplasia. This study investigated brain structures by magnetic resonance imaging (MRI) in patients with SDS. MRI of the brain was performed in nine patients (7 males, age range 7-37 years) with SDS and mutations in the SBDS gene and in 18 age- and gender-matched controls. MRI images were assessed visually, and volumetric analyses of the brain matter and structural midsagittal measurements were performed. Eight out of nine SBDS mutation-verified patients reported learning difficulties. Patients with SDS had smaller occipitofrontal head circumferences than the controls (Z-score -1.3 vs. +0.3, P = 0.021), and decreased global brain volume (1.74 L vs. 1.94 L, P = 0.019); both gray matter (P = 0.042) and white matter (P = 0.007) volumes were reduced. Patients with SDS had no macroscopic brain malformations, but they had significantly smaller age- and head size-adjusted areas of posterior fossa (P = 0.006), vermis (P = 0.002), corpus callosum (P = 0.020), and pons (P = 0.002), and significantly larger cerebrum-vermis ratio (P < 0.0001) than the healthy controls. SDS patients had structurally smaller posterior fossa and cerebellar vermis, corpus callosum, and brainstem than the healthy controls. The MRI findings may be related to the neuropsychological features described in SDS.

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“…Cases of Schwachman-Diamond syndrome presenting with neonatal diabetes have also been reported [16]. Mutations in both KCNJ11 [17] and ABCC8 [11] have been linked to DEND (developmental delay, epilepsy and neonatal diabetes) syndrome, a rare neuroendocrine disorder.…”

Section: Other Syndromesmentioning

confidence: 96%

Neonatal Diabetes: Applying Molecular Biology to Patient Care

Vartanian

Donn

2008

CPR

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Neonatal diabetes mellitus (NDM) is a rare cause of hyperglycemia in the neonatal period. We encountered a patient with neonatal diabetes mellitus and exocrine pancreatic insufficiency secondary to a homozygous insulin promoter factor-1 (IPF1) mutation. We sought to review the available literature regarding current etiologies and therapeutic options available to patients with NDM. Identification of genetic mutations and further investigation of neonatal diabetes mellitus has allowed for improvement in patient care and a better understanding of the etiology of neonatal diabetes mellitus. Given the rarity of the condition, the neonatologist, pediatrician and family practitioner must be aware of these changes in order to organize and facilitate appropriate care.

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A Case of Shwachman-Diamond Syndrome Presenting With Diabetes From Early Infancy

Cited by 26 publications

References 8 publications

Compound Heterozygous Mutations of the SBDS Gene in a Patient with Shwachman-Diamond Syndrome, Type 1 Diabetes Mellitus and Osteoporosis

Compound Heterozygous Mutations of the SBDS Gene in a Patient with Shwachman-Diamond Syndrome, Type 1 Diabetes Mellitus and Osteoporosis

Shwachman–Diamond syndrome is associated with structural brain alterations on MRI

Neonatal Diabetes: Applying Molecular Biology to Patient Care

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