BACKGROUND: Glycogen storage disease (GSD) is a disease caused by excessive deposition of glycogen in tissues due to genetic disorders in glycogen metabolism. Glycogen storage disease type I (GSD-I) is also known as VonGeirk disease and glucose-6-phosphatase deficiency. This disease is inherited in an autosomal recessive manner, and both sexes can be affected. The main symptoms include hypoglycaemia, hepatomegaly, acidosis, hyperlipidaemia, hyperuricaemia, hyperlactataemia, coagulopathy and developmental delay.
METHODS: Here, we present the case of a 13-year-old female patient with GSD Ia complicated with multiple inflammatory hepatic adenomas. She presented to the hospital with hepatomegaly, hypoglycaemia, and epistaxis. By clinical manifestations and imaging and laboratory examinations, we suspected that the patient suffered from GSD I. Finally, the diagnosis was confirmed by liver pathology and whole-exome sequencing (WES). WES revealed a synonymous mutation, c.648 G > T (p.L216 = , NM_000151.4), in exon 5 and a frameshift mutation, c.262delG (p.Val88Phefs*14, NM_000151.4), in exon 2 of the G6PC gene. According to the pedigree analysis results of first-generation sequencing, heterozygous mutations of c.648 G > T and c.262delG were obtained from the patient\'s father and mother. Liver pathology revealed that the solid nodules were hepatocellular hyperplastic lesions, and immunohistochemical (IHC) results revealed positive expression of CD34 (incomplete vascularization), liver fatty acid binding protein (L-FABP) and C-reactive protein (CRP) in nodule hepatocytes and negative expression of β-catenin and glutamine synthetase (GS). These findings suggest multiple inflammatory hepatocellular adenomas. PAS-stained peripheral hepatocytes that were mostly digested by PAS-D were strongly positive. This patient was finally diagnosed with GSD-Ia complicated with multiple inflammatory hepatic adenomas, briefly treated with nutritional therapy after diagnosis and then underwent living-donor liver allotransplantation. After 14 months of follow-up, the patient recovered well, liver function and blood glucose levels remained normal, and no complications occurred.
CONCLUSIONS: The patient was diagnosed with GSD-Ia combined with multiple inflammatory hepatic adenomas and received liver transplant treatment. For childhood patients who present with hepatomegaly, growth retardation, and laboratory test abnormalities, including hypoglycaemia, hyperuricaemia, and hyperlipidaemia, a diagnosis of GSD should be considered. Gene sequencing and liver pathology play important roles in the diagnosis and typing of GSD.

Alcoholic hepatitis (AH) is a clinicopathologic illness caused by excessive alcohol abuse and is a precursor of cirrhosis. The leukemoid reaction (LR) is characterized by a strikingly raised granulocyte count of 40,000-50,000 cells/mm3. The LR usually suggests an acute inflammatory reaction. It is usually mistaken for chronic myeloid leukemia. The initial phase of leukocytosis occurs due to the releasing of cells from the bone marrow with more immature cells, causing a left upper shift in the ratio of immature to mature neutrophils and macrophages. The LR is usually seen in cases of leukemia but is rare to present in alcohol hepatitis. Excessive alcohol use causes AH in persons with or without underlying chronic liver disease. In severe AH, leukemoid responses have been associated with very poor prognosis and short-term mortality. We describe a case of a 35-year-old male with severe AH with an LR.

Transient acantholytic dermatosis (TAD) is a benign, non-familial, non-immune mediated acantholytic disorder of unknown etiology. The presence of polymorphous, unorganized, pruritic lesions on the trunk, associated with focal acantholysis and dyskeratosis, resembles a wide variety of dermatoses. The etiology of TAD (also known as Grover\'s disease) is unknown, and the success of treatment relies on the correct identification of the disease; however, some cases are refractory to all forms of therapy. For accurate diagnosis, a comprehensive literature review is required. Here, the case of a 55-year-old male with TAD displaying a Darier-like histopathological pattern was reported. The patient was successfully treated with retinoids and acitretin (Neotigason), as well as dapsone, an anti-inflammatory agent, as maintenance therapy. The presence of more than two histological findings, limited to small foci and clinical information, can diagnose Darier disease. The exact pathogenesis has not been elucidated, thus further studies of the pathogenesis of TAD are required.

BACKGROUND: Primary intestinal NK/T cell lymphoma is rare but aggressive and exhibits a poor prognosis. Little is known about its clinical characteristics because few studies with small sample sizes have been reported.
OBJECTIVE: To provide clinicopathological features and endoscopic findings and to summarize the treatment outcomes of primary intestinal NK/T cell lymphoma to improve our understanding of this disease.
METHODS: Between January 2011 to December 2016, 13 patients with confirmed primary gastrointestinal NK/T cell lymphoma at our center were described, and an updated literature review was provided.
RESULTS: In this series of 13 cases, 69.23% were men, the median age was 39 years, and the median survival was 6 months. The common clinical manifestations included abdominal pain (76.92%) and gastrointestinal bleeding (46.15%). Lymphomas were common in the large intestine (69.23%). In 76.92% of patients, the clinical staging was stage I, and all 13 patients manifested ulcerative lesions and no tumor mass on endoscopy. The clinical characteristics of primary intestinal NK/T cell lymphomas were similar to results in existing literature.
CONCLUSIONS: Intestinal NK/T cell lymphoma shows nonspecific clinical features and poor prognosis, which is mainly expressed as ulcers on endoscopy. Emergency surgery may be an adverse prognostic factor of lymphoma, since it is prone to progress toward gastrointestinal perforation.