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New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency Type A: A Case Report and Literature Review.
Liu, H, Yu, X, He, S, Li, S
Current medical imaging. 2024;:1-7
Abstract
INTRODUCTION Molybdenum cofactor deficiency (MoCD-A) is an extremely rare autosomal recessive disease that presents with intractable seizures. The diagnosis poses challenges due to the limited number of cases reported worldwide. Magnetic resonance imaging (MRI) is a useful diagnostic tool that can detect brain injury associated with the disorder. The prognosis of MoCD-A is poor partly because most cases are initially misdiagnosed as HIE (hypoxic ischemic encephalopathy), emphasizing the need for an early and accurate diagnosis to improve quality of life and provide adequate genetic counseling to avoid new cases in the future. CASE REPORT This report presents a case of molybdenum cofactor deficiency type A (MoCD-A) caused by MOCS1 gene mutations. A male newborn was admitted on the 10th day of birth due to uncontrolled seizures and feeding difficulties. Brain MRI showed severe cerebral damage with multiple foci that did not enhance upon contrast administration. The diagnosis was confirmed by genetic analysis and the patient received rehabilitation. His parents also received genetic counseling. To the best of our knowledge, this is the first reported MoCD-A case that had enhanced MR imaging with Gd-DTPA (0.1 mmol/kg). In addition, we reviewed the clinical and neuroimaging features of 25 newborns diagnosed with MoCD-A, as documented in the existing literature. CONCLUSION MRI is crucial in the diagnosis of MoCD-A. A correct diagnosis can provide the family with timely genetic counseling to prevent future cases.
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[Clinical features and genetic analysis of a child with late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome].
Zhou, F, Wang, R, Yu, Z, Li, S, Li, X
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2021;(3):255-259
Abstract
OBJECTIVE To report on the clinical features and result of genetic testing for a child featuring immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. METHODS Clinical records, genetic testing, laboratory investigation and treatment of the child were summarized in addition with a comprehensive review of the literature. RESULTS The 3-year-old boy was administered due to intractable diarrhea, recurrent infections, liver dysfunction and failure to thrive, though no diabetes or skin disorder was observed. Laboratory testing showed elevated liver enzymes and total IgE, decreased albumin and electrolyte imbalance. Gastrointestinal endoscopy revealed erosion and granules in the duodenum, and edema in the terminal ileum and colon. Biopsies showed villous atrophy in the duodenum and terminal ileum. Genetic testing revealed that the patient has carried a missense c.1087A>G (p.I363V) variant in the exon 10 of the FOXP3 gene. He was treated with enteral and parenteral nutrition, anti infection and Sirolimus, and was waiting for hemopoietic stem cell transplantation. CONCLUSION Although IPEX syndrome usually occur during infancy, it should not be ruled out solely based on the age, and its presentation can be variable. For male children with refractory diarrhea, autoimmune disorder and growth retardation, the diagnosis should be suspected and confirmed by genetic testing.
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A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature.
Li, S, Yang, Y, Huang, L, Kong, M, Yang, Z
Molecular medicine reports. 2019;(5):4364-4376
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Abstract
Familial renal glucosuria (FRG) is a rare condition that involves isolated glucosuria despite normal blood glucose levels. Mutations in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium‑glucose cotransporter 2 (SGLT2), have been reported to be responsible for the disease. Genetic testing of the SLC5A2 gene was conducted in a Chinese family with FRG. A number of online tools were used to predict the potential effect of the identified mutations on SGLT2 function. Additionally, the SLC5A2 mutations previously reported in PubMed were summarized. A novel compound heterozygous mutation (c.514T>C, p.W172R; c.1540C>T, p.P514S) of the SLC5A2 gene in a Chinese child with FRG was identified. In total, 86 mutations of the SLC5A2 gene have been reported to be associated with FRG. The novel compound heterozygous mutation (c.514T>C, p.W172R; c.1540C>T, p.P514S) of the SLC5A2 gene may be responsible for the onset of FRG. The present study provides a starting point for further investigation of the molecular pathogenesis of the SLC5A2 gene mutation in patients with FRG.
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Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.
Tian, M, Qu, Y, Huang, L, Su, X, Li, S, Ying, J, Zhao, F, Mu, D
BMC pediatrics. 2019;(1):510
Abstract
BACKGROUND Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded by the sulfite oxidase gene (SUOX). Clinically, the disorder is classified as one of two forms: the late-onset mild form or the classic early-onset form. The latter is life-threatening and always leads to death during early childhood. Mild ISOD cases are rare and may benefit from dietary therapy. To date, no cases of ISOD have been reported to recover spontaneously. Here, we present three mild ISOD cases in one family, each with a stable clinical course and spontaneous recovery. CASE PRESENTATION All three siblings had two novel compound heterozygous mutations in the SUOX gene (NM_000456; c.1096C > T [p.R366C] and c.1376G > A [p.R459Q]). The siblings included two males and one female with late ages of onset (12-16 months) and presented with specific neuroimaging abnormalities limited to the bilateral globus pallidus and substantia nigra. The three patients had decreased plasma homocysteine levels. They exhibited a monophasic clinical course continuing up to 8.5 years even without dietary therapy. CONCLUSION This is the first report of mild ISOD cases with a stable clinical course and spontaneous recovery without dietary therapy. Our study provides an expansion for the clinical spectrum of ISOD. Furthermore, we highlight the importance of including ISOD in the differential diagnosis for patients presenting with late-onset symptoms, bilaterally symmetric regions of abnormal intensities in the basal ganglia, and decreased plasma homocysteine levels.
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Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.
Zhao, X, Su, Z, Liu, X, Song, J, Gan, Y, Wen, P, Li, S, Wang, L, Pan, L
BMC endocrine disorders. 2018;(1):78
Abstract
BACKGROUND Congenital lipoid adrenal hyperplasia (CLAH) is an extremely rare and the most severe form of congenital adrenal hyperplasia. Typical features include disorder of sex development, early-onset adrenal crisis and enlarged adrenal glands with fatty accumulation. CASE PRESENTATION We report a case of CLAH caused by mutations in the steroidogenic acute regulatory protein (StAR) gene. The patient had typical early-onset adrenal crisis at 2 months of age. She had normal-appearing female genitalia and a karyotype of 46, XY. The serum cortisol and adrenal steroids levels were always nearly undetectable, but the adrenocorticotropic hormone levels were extremely high. Genetic analysis revealed compound heterozygous mutations at c. 229C > T (p.Q77X) in exon 3 and c. 722C > T (p.Q258X) in exon 7 of the StAR gene. The former mutation was previously detected in only two other Chinese CLAH patients. Both mutations cause truncation of the StAR protein. The case reported here appears to be a classic example of CLAH with very small adrenal glands and is the second reported CLAH case with small adrenal glands thus far. In a 15-year follow-up, the patient's height was approximately average for females before age 4 and fell to - 1 SDS at 10 years of age. Her bone age was similar to her chronological age from age 4 to age 15 years. CONCLUSIONS In conclusion, this is a classic case of CLAH with exceptionally small adrenal glands. Q77X mutation seems to be more common in Chinese CLAH patients. Additionally, this is the first report of the growth pattern associated with CLAH after a 15-year follow-up.
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Multiple gastrointestinal metastases of squamous-cell lung cancer: A case report.
Li, X, Li, S, Ma, Z, Zhao, S, Wang, X, Wen, D
Medicine. 2018;(24):e11027
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RATIONALE Gastrointestinal multiple metastases of lung cancer are extremely rare. The majority of gastrointestinal metastasis cases are diagnosed at a late stage and the prognosis is extremely poor. This report describes the clinical characteristics and outcomes of a patient with gastrointestinal multiple metastases from squamous-cell lung cancer, with special emphasis on the diagnosis and treatment of metastatic lung cancer. PATIENT CONCERNS A 61-year-old man who presented with progressive abdominal distention was admitted to our hospital. Radiological examinations showed changes of post-primary pulmonary tuberculosis and mechanical obstruction of the small bowl. Histopathological findings of gastroscopic examination and biopsy specimens showed a diagnosis of squamous-cell carcinoma in the body of the stomach. DIAGNOSES Postoperative histopathology confirmed a gastrointestinal multiple squamous-cell carcinoma in stomach and small bowl. Finally, squamous-cell lung cancer was confirmed by lung biopsy. INTERVENTIONS During his hospitalization urgent surgery was performed because of acute abdomen. The patient underwent a laparotomy with curative gastrectomy for gastric cancer and small bowel partial resection. The patient was recommended with combination chemotherapy of carboplatin and paclitaxel for 3 cycles. OUTCOMES Six months later after operation, the patient succumbed to respiratory failure. LESSONS We searched the related literature of gastrointestinal metastases from lung cancer and the clinical presentation, site of metastasis, diagnosis, treatment, and survival time in these cases were reviewed. The present study may increase the awareness of early diagnosis and appropriate treatment of metastatic lung cancer of gastrointestinal tract.
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Esophageal duplication cyst with hemivertebrae: A case report and literature review.
Liu, Y, Zhou, L, Li, S, He, J, Abudusaimi, , Li, K, Aziguli, , Yao, H
Medicine. 2017;(46):e8398
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BACKGROUND Esophageal duplication cysts (EDCs) are rare congenital anomalies that can be associated with symptomatic spinal abnormalities, but presentations due to EDC symptoms are rarely found in the presence of spinal abnormalities. CASE SUMMARY A 6-month-old infant weighing approximately 5.0 kg presented with a 2-month pulmonary infection and more recent difficulty swallowing and nutritional intolerance that did not improve with medical treatment. Contrast-enhanced chest computed tomography showed a well-defined, mediastinal, homogeneous, low-density cystic mass of 11.9 × 5.5 × 5.1 cm, compressing the liver and bending the trachea forward. Hemivertebrae were present (T4 and T3). Diagnostic laparoscopy was performed, but was converted to open surgery. After ensuring that the cyst was not within the abdominal cavity, thoracotomy was performed, and the cyst was completely resected. Pathophysiological examination revealed an EDC. The patient recovered well, without symptoms 6 months later. CONCLUSIONS Overall, noninvasive imaging and diagnostic procedures may not be sufficient to define the exact location of an EDC. Although hemivertebrae were present, they were asymptomatic and did not require treatment; only the EDC induced nonspecific symptoms that disappeared after surgery.
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TBLR1 fuses to retinoid acid receptor α in a variant t(3;17)(q26;q21) translocation of acute promyelocytic leukemia.
Chen, Y, Li, S, Zhou, C, Li, C, Ru, K, Rao, Q, Xing, H, Tian, Z, Tang, K, Mi, Y, et al
Blood. 2014;(6):936-45
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The majority of acute promyelocytic leukemia (APL) cases are characterized by the PML-RARα fusion gene. Although the PML-RARα fusion gene can be detected in >98% of APL cases, RARα is also found to be fused with other partner genes, which are also related to all-trans retinoic acid (ATRA)-dependent transcriptional activity and cell differentiation. In this study, we identified a novel RARα fusion gene, TBLR1-RARα (GenBank KF589333), in a rare case of APL with a t(3;17)(q26;q21),t(7;17)(q11.2;q21) complex chromosomal rearrangement. To our knowledge, TBLR1-RARα is the 10th RARα chimeric gene that has been reported up to now. TBLR1-RARα contained the B-F domains of RARα and exhibited a distinct subcellular localization. It could form homodimers and also heterodimers with retinoid X receptor α. As a result, TBLR1-RARα exhibited diminished transcriptional activity by recruitment of more transcriptional corepressors compared with RARα. In the presence of pharmacologic doses of ATRA, TBLR1-RARα could be degraded, and its homodimerization was abrogated. Moreover, when treated with ATRA, TBLR1-RARα could mediate the dissociation and degradation of transcriptional corepressors, consequent transactivation of RARα target genes, and cell differentiation induction in a dose- and time-dependent manner.