{"title":"GNAS突变儿童右肘关节皮下钙化和固定屈曲畸形1例报告。","authors":"Hussain Alsaffar, Najya Attia, Senthil Senniappan","doi":"10.5812/ijem.110792","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>The art of medicine glorifies when a clinician listens carefully to the patient's story, gives a thorough examination, performs appropriate investigations, and finally links findings together to reach a definite diagnosis. An interesting case was reported here, highlighting the integration of different symptoms and manifestations with some relevant biochemical investigations to reach a final diagnosis. To the best of our knowledge, fixed flexion deformity, as a complication of subcutaneous calcification, has not been previously reported in a child with Albright hereditary osteodystrophy (AHO).</p><p><strong>Case presentation: </strong>A 2.5-year-old boy was born at term with a birth weight of 3.5 kg (-0.49 SDS). The child was referred to a general pediatrician with a history of right elbow joint swelling noticed initially at six months of age. He then developed the limitation of right upper arm movement, which slowly progressed afterward. The patient had no history of trauma. At nine months of age, he was diagnosed with hypothyroidism, preceded by cold skin, dry hair, and constipation. At nine years of age, he presented with a fixed flexion deformity of the right elbow associated with markedly limited joint movement and symmetrical hands with hyperpigmented knuckles of right metacarpal bones. Subcutaneous masses were felt along the right forearm, showing tenderness on palpation. Investigations revealed elevated serum parathyroid hormone and normal calcium indicating parathyroid hormone resistance. Further genetic testing revealed GNAS mutation. The child was obese throughout his childhood.</p><p><strong>Conclusions: </strong>This case report describes an obese child with subcutaneous calcification that led to fixed flexion deformity of the elbow, starting at an incredibly early age. Hypothyroidism and pseudohypoparathyroidism raised the suspicion of AHO, which was later confirmed by genetic testing. This is the first case report on fixed flexion deformity in a patient with GNAS mutation (c.719-1G > A Chr20: 57484737) in West Asia.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"19 2","pages":"e110792"},"PeriodicalIF":2.1000,"publicationDate":"2021-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c0/aa/ijem-19-2-110792.PMC8198617.pdf","citationCount":"0","resultStr":"{\"title\":\"Subcutaneous Calcification and Fixed Flexion Deformity of the Right Elbow Joint in a Child with a GNAS Mutation: A Case Report.\",\"authors\":\"Hussain Alsaffar, Najya Attia, Senthil Senniappan\",\"doi\":\"10.5812/ijem.110792\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>The art of medicine glorifies when a clinician listens carefully to the patient's story, gives a thorough examination, performs appropriate investigations, and finally links findings together to reach a definite diagnosis. An interesting case was reported here, highlighting the integration of different symptoms and manifestations with some relevant biochemical investigations to reach a final diagnosis. To the best of our knowledge, fixed flexion deformity, as a complication of subcutaneous calcification, has not been previously reported in a child with Albright hereditary osteodystrophy (AHO).</p><p><strong>Case presentation: </strong>A 2.5-year-old boy was born at term with a birth weight of 3.5 kg (-0.49 SDS). The child was referred to a general pediatrician with a history of right elbow joint swelling noticed initially at six months of age. He then developed the limitation of right upper arm movement, which slowly progressed afterward. The patient had no history of trauma. At nine months of age, he was diagnosed with hypothyroidism, preceded by cold skin, dry hair, and constipation. At nine years of age, he presented with a fixed flexion deformity of the right elbow associated with markedly limited joint movement and symmetrical hands with hyperpigmented knuckles of right metacarpal bones. Subcutaneous masses were felt along the right forearm, showing tenderness on palpation. Investigations revealed elevated serum parathyroid hormone and normal calcium indicating parathyroid hormone resistance. Further genetic testing revealed GNAS mutation. The child was obese throughout his childhood.</p><p><strong>Conclusions: </strong>This case report describes an obese child with subcutaneous calcification that led to fixed flexion deformity of the elbow, starting at an incredibly early age. Hypothyroidism and pseudohypoparathyroidism raised the suspicion of AHO, which was later confirmed by genetic testing. This is the first case report on fixed flexion deformity in a patient with GNAS mutation (c.719-1G > A Chr20: 57484737) in West Asia.</p>\",\"PeriodicalId\":13969,\"journal\":{\"name\":\"International Journal of Endocrinology and Metabolism\",\"volume\":\"19 2\",\"pages\":\"e110792\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2021-04-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c0/aa/ijem-19-2-110792.PMC8198617.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Endocrinology and Metabolism\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5812/ijem.110792\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/4/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Endocrinology and Metabolism","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5812/ijem.110792","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/4/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
摘要
导言:当临床医生仔细倾听病人的故事,进行彻底的检查,进行适当的调查,并最终将结果联系在一起以达到明确的诊断时,医学艺术就会得到赞美。这里报告了一个有趣的病例,强调将不同的症状和表现与一些相关的生化检查相结合,以达到最终诊断。据我们所知,固定屈曲畸形作为皮下钙化的并发症,在患有奥尔布赖特遗传性骨营养不良(who)的儿童中尚未见报道。病例介绍:一名2.5岁男孩足月出生,出生体重为3.5 kg (-0.49 SDS)。该患儿在6个月大时发现右肘关节肿胀,并被转介给普通儿科医生。随后出现右上臂活动受限,此后病情缓慢好转。患者无外伤史。9个月大时,他被诊断为甲状腺功能减退症,并伴有皮肤冰冷、头发干燥和便秘。9岁时,患者出现右肘固定屈曲畸形,关节活动明显受限,双手对称,右掌骨指关节色素沉着。右前臂皮下肿块,触诊有压痛。调查显示血清甲状旁腺激素升高,钙正常,提示甲状旁腺激素抵抗。进一步基因检测显示GNAS突变。这个孩子整个童年都很肥胖。结论:本病例报告描述了一个肥胖儿童,皮下钙化导致肘关节固定屈曲畸形,开始于令人难以置信的早期。甲状旁腺功能减退和假性甲状旁腺功能减退引起了世卫组织的怀疑,后来通过基因检测得到证实。这是西亚第一例GNAS突变(c.719-1G > a Chr20: 57484737)患者的固定屈曲畸形病例报告。
Subcutaneous Calcification and Fixed Flexion Deformity of the Right Elbow Joint in a Child with a GNAS Mutation: A Case Report.
Introduction: The art of medicine glorifies when a clinician listens carefully to the patient's story, gives a thorough examination, performs appropriate investigations, and finally links findings together to reach a definite diagnosis. An interesting case was reported here, highlighting the integration of different symptoms and manifestations with some relevant biochemical investigations to reach a final diagnosis. To the best of our knowledge, fixed flexion deformity, as a complication of subcutaneous calcification, has not been previously reported in a child with Albright hereditary osteodystrophy (AHO).
Case presentation: A 2.5-year-old boy was born at term with a birth weight of 3.5 kg (-0.49 SDS). The child was referred to a general pediatrician with a history of right elbow joint swelling noticed initially at six months of age. He then developed the limitation of right upper arm movement, which slowly progressed afterward. The patient had no history of trauma. At nine months of age, he was diagnosed with hypothyroidism, preceded by cold skin, dry hair, and constipation. At nine years of age, he presented with a fixed flexion deformity of the right elbow associated with markedly limited joint movement and symmetrical hands with hyperpigmented knuckles of right metacarpal bones. Subcutaneous masses were felt along the right forearm, showing tenderness on palpation. Investigations revealed elevated serum parathyroid hormone and normal calcium indicating parathyroid hormone resistance. Further genetic testing revealed GNAS mutation. The child was obese throughout his childhood.
Conclusions: This case report describes an obese child with subcutaneous calcification that led to fixed flexion deformity of the elbow, starting at an incredibly early age. Hypothyroidism and pseudohypoparathyroidism raised the suspicion of AHO, which was later confirmed by genetic testing. This is the first case report on fixed flexion deformity in a patient with GNAS mutation (c.719-1G > A Chr20: 57484737) in West Asia.
期刊介绍:
The aim of the International Journal of Endocrinology and Metabolism (IJEM) is to increase knowledge, stimulate research in the field of endocrinology, and promote better management of patients with endocrinological disorders. To achieve this goal, the journal publishes original research papers on human, animal and cell culture studies relevant to endocrinology.