Pub Date : 2020-08-10DOI: 10.15406/mojcr.2020.10.00352
Sreethish Sasi
Brucellosis is a zoonotic disease that is endemic to the Arabian Peninsula and is found to affect many organs of the human body. Neurological manifestations with brucellosis were reported in 25% of cases. However, most cases suggested the involvement of the central nervous system (CNS) by invasion through the blood-brain barrier. Here, we report a 45-year old male patient who presented with sudden onset right upper and lower limb weakness, similar to the presentation of an ischemic cerebrovascular accident (CVA), associated with constitutional symptoms of fever and low back pain. The patient had no signs to suggest cranial nerve or cord involvement. Further analysis showed that his blood and serum samples were positive for Brucella spp. He was treated with intravenous ceftriaxone for seven days, followed by oral doxycycline and rifampicin for three months. He was asymptomatic at follow-up after three months. Neurobrucellosis can present with stroke-like symptoms, and in endemic areas, prompt testing of brucella serology is warranted in patients presenting as stroke with systemic symptoms.
{"title":"Neurobrucellosis presenting as stroke: a case report from Qatar","authors":"Sreethish Sasi","doi":"10.15406/mojcr.2020.10.00352","DOIUrl":"https://doi.org/10.15406/mojcr.2020.10.00352","url":null,"abstract":"Brucellosis is a zoonotic disease that is endemic to the Arabian Peninsula and is found to affect many organs of the human body. Neurological manifestations with brucellosis were reported in 25% of cases. However, most cases suggested the involvement of the central nervous system (CNS) by invasion through the blood-brain barrier. Here, we report a 45-year old male patient who presented with sudden onset right upper and lower limb weakness, similar to the presentation of an ischemic cerebrovascular accident (CVA), associated with constitutional symptoms of fever and low back pain. The patient had no signs to suggest cranial nerve or cord involvement. Further analysis showed that his blood and serum samples were positive for Brucella spp. He was treated with intravenous ceftriaxone for seven days, followed by oral doxycycline and rifampicin for three months. He was asymptomatic at follow-up after three months. Neurobrucellosis can present with stroke-like symptoms, and in endemic areas, prompt testing of brucella serology is warranted in patients presenting as stroke with systemic symptoms.","PeriodicalId":93339,"journal":{"name":"MOJ clinical & medical case reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46337914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-07-14DOI: 10.15406/mojcr.2020.10.00350
N. Gaballa
Glucose is essential as the main brain energy source, hypoglycemia is dangerous and may cause neuronal damage as well as siezers and acidosis. The undetectable hypoglycemia has serious effects if passed unnoticed specially in infants who cannot explain their sensation and complain , any abnormal clinical or laboratory response should be addressed as a special entity and dealing with as if a complain that must be investigated.
{"title":"Cholestasis and neonatal hypoglycaemia","authors":"N. Gaballa","doi":"10.15406/mojcr.2020.10.00350","DOIUrl":"https://doi.org/10.15406/mojcr.2020.10.00350","url":null,"abstract":"Glucose is essential as the main brain energy source, hypoglycemia is dangerous and may cause neuronal damage as well as siezers and acidosis. The undetectable hypoglycemia has serious effects if passed unnoticed specially in infants who cannot explain their sensation and complain , any abnormal clinical or laboratory response should be addressed as a special entity and dealing with as if a complain that must be investigated.","PeriodicalId":93339,"journal":{"name":"MOJ clinical & medical case reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49188871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-04-30DOI: 10.15406/MOJCR.2020.10.00341
Y. Kato, H. Bando, H. Yamashita, S. Yada, Shunsuke Tokuhara, Hatsue Tokuhara, T. Mutsuda
Diabetes mellitus causes macrovascular, microvascular angiopathy, and increased cancer risk. Authors et al. have continued clinical practice and research on diabetes cases. Current case is impressive 79-year-old female with various diseases. They include asthma and COPD, steroid intake for years, sleep apnea syndrome (SAS), Continuous Positive Airway Pressure (CPAP) therapy, tongue cancer, arteriosclerosis, bone complications, Carpal tunnel syndrome (CTS), and so on. When she developed hyperglycemia with 9.0% of HbA1c, Xultophy® was started. It contains insulin degludec and liraglutide which is Glucagon-like peptide-1 receptor agonist (GLP-1 RA). HbA1c values decreased as 7.9%, 7.3%, 6.9%, 6.5% in 1-4 months, with remarkable effect. The satisfactory efficacy may be from double agents of Xultophy® or probable secondary diabetes due to continuation of steroid of the case. This report will be expected to be some reference in the future diabetic research development.
{"title":"Impressive clinical course of diabetic patient with various medical problems and remarkable improvement by insulin degludec and liraglutide (Xultophy)","authors":"Y. Kato, H. Bando, H. Yamashita, S. Yada, Shunsuke Tokuhara, Hatsue Tokuhara, T. Mutsuda","doi":"10.15406/MOJCR.2020.10.00341","DOIUrl":"https://doi.org/10.15406/MOJCR.2020.10.00341","url":null,"abstract":"Diabetes mellitus causes macrovascular, microvascular angiopathy, and increased cancer risk. Authors et al. have continued clinical practice and research on diabetes cases. Current case is impressive 79-year-old female with various diseases. They include asthma and COPD, steroid intake for years, sleep apnea syndrome (SAS), Continuous Positive Airway Pressure (CPAP) therapy, tongue cancer, arteriosclerosis, bone complications, Carpal tunnel syndrome (CTS), and so on. When she developed hyperglycemia with 9.0% of HbA1c, Xultophy® was started. It contains insulin degludec and liraglutide which is Glucagon-like peptide-1 receptor agonist (GLP-1 RA). HbA1c values decreased as 7.9%, 7.3%, 6.9%, 6.5% in 1-4 months, with remarkable effect. The satisfactory efficacy may be from double agents of Xultophy® or probable secondary diabetes due to continuation of steroid of the case. This report will be expected to be some reference in the future diabetic research development.","PeriodicalId":93339,"journal":{"name":"MOJ clinical & medical case reports","volume":"10 1","pages":"48-51"},"PeriodicalIF":0.0,"publicationDate":"2020-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45645398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.15406/MOJCR.2020.10.00365
D. Dima
We present this case report of a patient with NRAS Q61R-mutant melanoma, suspected to be mucosal melanoma of small bowel origin with cardiac, hepatic and pulmonary metastases. We focus on the unique manner of diagnosis (requiring the finding of a specific molecular signature via liquid biopsy in conjunction with tissue biopsy) and management of this rare cancer with first-line immunotherapy with dual checkpoint blockade followed by maintenance PD-1 inhibition, allowing the patient to have sustained clinical response at eight months since original diagnosis.
{"title":"NRAS Q61R-mutant mucosal melanoma with cardiac metastasis - a diagnostic challenge","authors":"D. Dima","doi":"10.15406/MOJCR.2020.10.00365","DOIUrl":"https://doi.org/10.15406/MOJCR.2020.10.00365","url":null,"abstract":"We present this case report of a patient with NRAS Q61R-mutant melanoma, suspected to be mucosal melanoma of small bowel origin with cardiac, hepatic and pulmonary metastases. We focus on the unique manner of diagnosis (requiring the finding of a specific molecular signature via liquid biopsy in conjunction with tissue biopsy) and management of this rare cancer with first-line immunotherapy with dual checkpoint blockade followed by maintenance PD-1 inhibition, allowing the patient to have sustained clinical response at eight months since original diagnosis.","PeriodicalId":93339,"journal":{"name":"MOJ clinical & medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67083057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.15406/MOJCR.2020.10.00399
N. Tshifularo
Posterior reversible encephalopathy syndrome (PRES) is clinical entity characterised by neurologic and radiologic findings. PRES is predominantly caused by malignant hypertension mostly seen in obstetric practise however it has also been associated with sepsis in females. We describe a case of a 11 years old female who presented with complicated appendicitis and developed PRES during her admission at Dr Gearge Mukhari Academic Hospital. Diagnosis: Following exploratory laparotomy for complicated appedicitis with generalized peritonitis, she developed vision loss. CT findings were in keeping with posterior reversible encephalopathy syndrome Interventions: The patient was managed expectedly for sepsis and shock. Her symptoms resolved and she regained her sight completely with no neurological deficits. Conclusions: Intra-abominal sepsis is documented risk factor for PRES through inflammatory vascular phenomonon which is poorly understood. Complicated appendicitis can be complicated with this clinical syndrome aspresented in our practise.
{"title":"Posterior reversible encephalopathy syndrome (PRES) in a patient with complicated appendicitis. A case report","authors":"N. Tshifularo","doi":"10.15406/MOJCR.2020.10.00399","DOIUrl":"https://doi.org/10.15406/MOJCR.2020.10.00399","url":null,"abstract":"Posterior reversible encephalopathy syndrome (PRES) is clinical entity characterised by neurologic and radiologic findings. PRES is predominantly caused by malignant hypertension mostly seen in obstetric practise however it has also been associated with sepsis in females. We describe a case of a 11 years old female who presented with complicated appendicitis and developed PRES during her admission at Dr Gearge Mukhari Academic Hospital. Diagnosis: Following exploratory laparotomy for complicated appedicitis with generalized peritonitis, she developed vision loss. CT findings were in keeping with posterior reversible encephalopathy syndrome Interventions: The patient was managed expectedly for sepsis and shock. Her symptoms resolved and she regained her sight completely with no neurological deficits. Conclusions: Intra-abominal sepsis is documented risk factor for PRES through inflammatory vascular phenomonon which is poorly understood. Complicated appendicitis can be complicated with this clinical syndrome aspresented in our practise.","PeriodicalId":93339,"journal":{"name":"MOJ clinical & medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67083102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.15406/MOJCR.2020.10.00336
S. Shafti
Introduction: While some of scholars believe that combining adult and adolescent suicidal behavior findings can result in misleading conclusions, some of researchers have stated that suicidal behavior may be a different phenomenon in adolescents than in adults. Hence, in the present study, the clinical profile of suicidal behavior among adult and child & adolescent psychiatric inpatients, has been compared with each other, to assess their resemblances or variances, in a non-western, local patient population. Methods: Five acute academic wards, which have been specified for admission of first episode adult psychiatric patients, and five acute non-academic wards, which have been specified for admission of recurrent episode adult psychiatric patients, had been selected for current study. In addition, child & adolescent section of Razi psychiatric hospital was the field of appraisal concerning its specific age-group. All inpatients with suicidal behavior (successful suicide and attempted suicide, in total), during the last five years (2013-2018), had been included in the present investigation. Besides, clinical diagnosis was based on Diagnostic and Statistical Manual of Mental Disorders, 5th edition. Intra-group and between-group analyses had been performed by ‘comparison of proportions’. Statistical significance as well, had been defined as p value ≤0.05. Results: As said by results, during a sixty months period, sixty-three suicidal behaviors among adult patients, including one successful suicide and sixty-two suicide attempts, and fourteen suicide attempts among child & adolescent patients, without any successful one, had been recorded by the security board of the hospital. While among adults and child & adolescent patients no significant gender-based difference was evident, with respect to suicidal conduct, among adults, the most frequent mental illness was bipolar I disorder, which was significantly more prevalent in comparison with other mental disorders. The other disorders included schizophrenia, major depressive disorder, personality disorders (borderline & antisocial), substance abuse disorders, and adjustment disorder. Among child & adolescent subjects, the most frequent mental illness was, once more, bipolar I disorder, followed by conduct disorder, and substance abuse disorder. Moreover, no significant difference was evident between the first admission and recurrent admission cases in adults or child & adolescents. While self-mutilation, self poisoning and hanging were the preferred methods of suicide among both groups, self-mutilation was significantly more prevalent than the other ways. Conclusion: While the annual incidence of suicidal behavior in inpatient adults and child & adolescents was comparable, bipolar disorder was the most frequent serious mental illness among suicidal subjects of both groups. Moreover, self-mutilation was the preferred method of suicide in adult and child & adolescent psychiatric inpatients.
{"title":"Suicide and suicide attempts among psychiatric patients: A contrast between adults and adolescents","authors":"S. Shafti","doi":"10.15406/MOJCR.2020.10.00336","DOIUrl":"https://doi.org/10.15406/MOJCR.2020.10.00336","url":null,"abstract":"Introduction: While some of scholars believe that combining adult and adolescent suicidal behavior findings can result in misleading conclusions, some of researchers have stated that suicidal behavior may be a different phenomenon in adolescents than in adults. Hence, in the present study, the clinical profile of suicidal behavior among adult and child & adolescent psychiatric inpatients, has been compared with each other, to assess their resemblances or variances, in a non-western, local patient population. Methods: Five acute academic wards, which have been specified for admission of first episode adult psychiatric patients, and five acute non-academic wards, which have been specified for admission of recurrent episode adult psychiatric patients, had been selected for current study. In addition, child & adolescent section of Razi psychiatric hospital was the field of appraisal concerning its specific age-group. All inpatients with suicidal behavior (successful suicide and attempted suicide, in total), during the last five years (2013-2018), had been included in the present investigation. Besides, clinical diagnosis was based on Diagnostic and Statistical Manual of Mental Disorders, 5th edition. Intra-group and between-group analyses had been performed by ‘comparison of proportions’. Statistical significance as well, had been defined as p value ≤0.05. Results: As said by results, during a sixty months period, sixty-three suicidal behaviors among adult patients, including one successful suicide and sixty-two suicide attempts, and fourteen suicide attempts among child & adolescent patients, without any successful one, had been recorded by the security board of the hospital. While among adults and child & adolescent patients no significant gender-based difference was evident, with respect to suicidal conduct, among adults, the most frequent mental illness was bipolar I disorder, which was significantly more prevalent in comparison with other mental disorders. The other disorders included schizophrenia, major depressive disorder, personality disorders (borderline & antisocial), substance abuse disorders, and adjustment disorder. Among child & adolescent subjects, the most frequent mental illness was, once more, bipolar I disorder, followed by conduct disorder, and substance abuse disorder. Moreover, no significant difference was evident between the first admission and recurrent admission cases in adults or child & adolescents. While self-mutilation, self poisoning and hanging were the preferred methods of suicide among both groups, self-mutilation was significantly more prevalent than the other ways. Conclusion: While the annual incidence of suicidal behavior in inpatient adults and child & adolescents was comparable, bipolar disorder was the most frequent serious mental illness among suicidal subjects of both groups. Moreover, self-mutilation was the preferred method of suicide in adult and child & adolescent psychiatric inpatients.","PeriodicalId":93339,"journal":{"name":"MOJ clinical & medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67083196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.15406/MOJCR.2020.10.00361
Anusiri Inugala
Magnets are unusual gastrointestinal foreign bodies. Ingestion of multiple magnets may lead to serious complications including bowel perforation. Presenting the case of an 11-year-old girl who ingested 2 singing magnets. The patient presented with a history of pain abdomen and bilious vomiting and constipation of one day duration, 20 days after ingestion of the magnets. On examination there was distension of abdomen and severe tenderness all over the abdomen along with rigidity. Abdominal radiograph showed the presence of foreign bodies in the abdomen. In view of features of peritonitis, the patient was taken up for an exploratory laparotomy. Intraoperatively two perforations were found, one in the jejunum and the other in the ileum. The perforations were caused due to the pressure necrosis caused by the presence of magnets in different loops of the bowel. The perforations were closed. Post-operative period was uneventful. In conclusion, it is important to be aware of the problems that can be caused in cases of multiple magnet ingestion and to intervene at the earliest to prevent further complications.
{"title":"Double magnets causing double perforations – a case report","authors":"Anusiri Inugala","doi":"10.15406/MOJCR.2020.10.00361","DOIUrl":"https://doi.org/10.15406/MOJCR.2020.10.00361","url":null,"abstract":"Magnets are unusual gastrointestinal foreign bodies. Ingestion of multiple magnets may lead to serious complications including bowel perforation. Presenting the case of an 11-year-old girl who ingested 2 singing magnets. The patient presented with a history of pain abdomen and bilious vomiting and constipation of one day duration, 20 days after ingestion of the magnets. On examination there was distension of abdomen and severe tenderness all over the abdomen along with rigidity. Abdominal radiograph showed the presence of foreign bodies in the abdomen. In view of features of peritonitis, the patient was taken up for an exploratory laparotomy. Intraoperatively two perforations were found, one in the jejunum and the other in the ileum. The perforations were caused due to the pressure necrosis caused by the presence of magnets in different loops of the bowel. The perforations were closed. Post-operative period was uneventful. In conclusion, it is important to be aware of the problems that can be caused in cases of multiple magnet ingestion and to intervene at the earliest to prevent further complications.","PeriodicalId":93339,"journal":{"name":"MOJ clinical & medical case reports","volume":"10 1","pages":"130-131"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67083462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.15406/MOJCR.2020.10.00331
I. Velez
Infective endocarditis is a relatively uncommon but potentially lethal disease. Although medical and surgical therapies have contributed to ameliorating prognosis, the mortality rate remains high. Presenting symptoms are variable and may sometimes delay the diagnosis. Musculoskeletal manifestations are reported frequently, and they can represent the major sign of the disease, leading to diagnostic difficulties. Septic vertebral locations during infective endocarditis are unusual; this association accounts for only a small percentage of the rheumatologic forms of infective endocarditis (IE), early diagnosis, and appropriate treatment to reduce complications. Thus, in patients with signs and symptoms of discitis, the investigation of cardiac valve involvement is relevant.
{"title":"Infectious endocarditis: unusual cause of lower back pain","authors":"I. Velez","doi":"10.15406/MOJCR.2020.10.00331","DOIUrl":"https://doi.org/10.15406/MOJCR.2020.10.00331","url":null,"abstract":"Infective endocarditis is a relatively uncommon but potentially lethal disease. Although medical and surgical therapies have contributed to ameliorating prognosis, the mortality rate remains high. Presenting symptoms are variable and may sometimes delay the diagnosis. Musculoskeletal manifestations are reported frequently, and they can represent the major sign of the disease, leading to diagnostic difficulties. Septic vertebral locations during infective endocarditis are unusual; this association accounts for only a small percentage of the rheumatologic forms of infective endocarditis (IE), early diagnosis, and appropriate treatment to reduce complications. Thus, in patients with signs and symptoms of discitis, the investigation of cardiac valve involvement is relevant.","PeriodicalId":93339,"journal":{"name":"MOJ clinical & medical case reports","volume":"165 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67082595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.15406/MOJCR.2020.10.00330
Ahmed Elrouby
{"title":"Duplication cyst of the cecum; a rare cause of intestinal obstruction in infants","authors":"Ahmed Elrouby","doi":"10.15406/MOJCR.2020.10.00330","DOIUrl":"https://doi.org/10.15406/MOJCR.2020.10.00330","url":null,"abstract":"","PeriodicalId":93339,"journal":{"name":"MOJ clinical & medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67082982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.15406/MOJCR.2020.10.00368
N. Nimeri
Smith–Magenis Syndrome (SMS) is a rare multisystem genetic disorder caused by a heterozygous deletion of or a heterozygous pathogenic variant in RAI1 on chromosome 17p11.2. characterized by the variable intellectual deficit, sleep disturbance, brachycephaly, midface hypoplasia, prognathism, hoarse voice, speech delay with or without hearing loss, psychomotor and growth retardation, cutaneous features, and behaviour problems. Our reported case is a term newborn diagnosed antenatally in the feto-maternal unit to have large multi-cystic dysplastic left kidney and unilateral cerebralventriculomegaly. The genetic disorder was suspected due to symmetric IUGR and dysmorphic features. Chromosomal micro-array confirmed the diagnosis of Smith-Magenis Syndrome.MRI brain confirmed Dandy-Walker spectrum malformation. Ultrasound abdomen showed left multi-cystic dysplastic kidney. Smith-Magenis Syndrome is usually diagnosed in childhood and little is known about its presentation in neonates especially in the Arab population. Our patient presented with Intra-cranial haemorrhage, seizures, thrombocytopenia, feeding difficulty, hypoglycemia and acute kidney injury; which all resolve before discharge.
{"title":"Smith–magenis syndrome. A unique neonatal presentation among the Arab population","authors":"N. Nimeri","doi":"10.15406/MOJCR.2020.10.00368","DOIUrl":"https://doi.org/10.15406/MOJCR.2020.10.00368","url":null,"abstract":"Smith–Magenis Syndrome (SMS) is a rare multisystem genetic disorder caused by a heterozygous deletion of or a heterozygous pathogenic variant in RAI1 on chromosome 17p11.2. characterized by the variable intellectual deficit, sleep disturbance, brachycephaly, midface hypoplasia, prognathism, hoarse voice, speech delay with or without hearing loss, psychomotor and growth retardation, cutaneous features, and behaviour problems. Our reported case is a term newborn diagnosed antenatally in the feto-maternal unit to have large multi-cystic dysplastic left kidney and unilateral cerebralventriculomegaly. The genetic disorder was suspected due to symmetric IUGR and dysmorphic features. Chromosomal micro-array confirmed the diagnosis of Smith-Magenis Syndrome.MRI brain confirmed Dandy-Walker spectrum malformation. Ultrasound abdomen showed left multi-cystic dysplastic kidney. Smith-Magenis Syndrome is usually diagnosed in childhood and little is known about its presentation in neonates especially in the Arab population. Our patient presented with Intra-cranial haemorrhage, seizures, thrombocytopenia, feeding difficulty, hypoglycemia and acute kidney injury; which all resolve before discharge.","PeriodicalId":93339,"journal":{"name":"MOJ clinical & medical case reports","volume":"339 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67083086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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