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BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. Although the hematologic features and characteristics of the somatic disorders commonly associated with SDS are well known, emerging data from case reports and patient registries suggest that SDS may also be associated with an increased risk of diabetes mellitus. However, currently available data on SDS-associated diabetes are limited and do not allow conclusions regarding prevalence and incidence rates, clinical course, and outcomes.
METHODS: Here we report the case of a 5-year-old girl with SDS who underwent bone marrow transplantation at the age of 3 months and developed autoantibody-positive type 1 diabetes mellitus at the age of 1.8 years. The manifestation and course of diabetes development were mild, complicated by concurrent spontaneous episodes of hypoglycemia even before the onset of antidiabetic treatment. Currently, adequate metabolic control can be achieved by dietary intervention.
CONCLUSIONS: Considering that the SBDS protein regulates mitosis and ribosomal biosynthesis and that its suppression may cause immunologic instability and chronic inflammation, this case provides insight into the phenotype of rare Shwachman-Diamond syndrome-associated diabetes mellitus, which may be characterized by significant age-dependent differences in clinical course.

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报道1例急性双系列白血病，因化疗后血象难以恢复伴胰腺重度脂肪化，行基因检测诊断Shwachman-Diamond综合征。该病临床特征表现为骨髓功能衰竭，胰腺外分泌功能障碍，骨骼异常，恶性肿瘤转化风险，是一种累及多系统的罕见遗传病，需临床医生提高对该病的认识。.

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Shwachman-Diamond syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. There is considerable variation in the phenotypes of SDS. We present a case of an infant presenting with SDS and left-sided ptosis.
We report a case of an infant who presented with 2 episodes of severe sepsis and cytopenia, without overt symptoms of exocrine pancreatic deficiency or skeletal abnormalities. Persistent left-sided ptosis was noted in both presentations. Genetic testing confirmed the diagnosis of SDS. The left-sided ptosis was diagnosed as congenital myogenic ptosis.
The association of ptosis and other congenital bone marrow failure syndromes is well established, but this is the first description of SDS with ptosis. This association may expand our understanding of SDS phenotypes if similar cases are reported in the future.

Diarrhea remains an important cause of morbidity and mortality worldwide. Chronic diarrhea often represents a diagnostic challenge for family medicine and pediatric physicians because of its broad spectrum of possible etiologies. The differential diagnoses can be narrowed by taking a detailed history and performing an appropriate physical examination. In general, chronic diarrhea can be due to osmotic, secretory, inflammatory, or dysmotility-related pathologies. We present the case of a 30-month-old male who was brought to the family medicine clinic with a complaint of abdominal bloating and persistent diarrhea after every feeding for four months. His stools were foul-smelling and occurred more than four times a day. The patient was below the second standard deviations for weight and height. He appeared pale, and there was no scleral icterus. The patient underwent upper endoscopy, which showed no abnormal gross findings. A dedicated abdominal computed tomography scan was performed to evaluate the pancreas for any structural abnormalities. The scan demonstrated complete replacement of the pancreatic parenchyma by fatty tissue. The diagnosis of Shwachman-Diamond syndrome was established as the analysis revealed a mutation in the SBDS gene. The patient was treated with pancreatic enzyme replacement therapy. After two months of follow-up, the parents reported that the patient had significant improvement in diarrhea. Shwachman-Diamond syndrome is a very rare inherited disorder characterized by bone marrow failure, exocrine pancreatic dysfunction, and skeletal abnormalities. Despite its rarity, clinicians should keep a high index for this condition when they encounter a child with unexplained chronic diarrhea.

BACKGROUND: The aim of this study was to analyze the genetic abnormalities and clinical manifestations of Shwachman-Diamond syndrome (SDS).
METHODS: A Chinese infant with elevated transaminase and a novel mutation at of sbdsc.258 +2T>C and c.184a>Tc.292G>A.
METHODS: 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.
METHODS: 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.
RESULTS: The stool traits improved, and the levels of liver function transaminases decreased compared with before.
CONCLUSIONS: 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.

BACKGROUND: The features of Shwachman-Diamond syndrome (SDS) include exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow dysfunction; an often overlooked feature is hepatic involvement.
METHODS: We report a child who initially presented with failure to thrive and mildly elevated transaminase levels and was determined to have pancreatic insufficiency due to SDS. During follow-up he had persistently elevated transaminase levels and developed hepatosplenomegaly. An investigation was performed to determine the etiology of ongoing liver injury, including a liver biopsy which revealed hepatic cirrhosis.
CONCLUSIONS: Cirrhosis has rarely been reported with SDS. While many of the hepatic disorders associated with SDS improve with age, there are rare exceptions with serious implications for long-term outcome.