A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient
Oman Med J. 2024 Jan 31;39(1):e599. doi: 10.5001/omj.2024.08. eCollection 2024 Jan.ABSTRACTInfantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000. The wide spectrum of symptoms and associated diseases makes the diagnosis of this disease particularly challenging. Here, we report a 12-year-old Bahraini male who presented with the core clinical features of IMNEPD including intellectual disability, global developmental delay, sensorineural hearing loss, endocrine dysfunction, and exocrine pancreatic insufficien...
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Hasan M Isa Sara D Khalaf Sara Janahi Mohamed M Naser Noor Al Hamad Hasan Alhaddar Maryam Busehail Source Type: research

Idiopathic Hypertension with Multiple Cranial Nerve Palsies: A Case Report and Literature Review
We report a rare case of idiopathic intracranial hypertension (IIH) with multiple cranial nerve palsies involving cranial nerves VI, VII, IX, and X in a 32-year-old female who had no prior comorbidities. Her condition improved rapidly on a ten-day regimen of acetazolamide and tablet topiramate. IIH should be considered in every patient presenting with persistent headache and multiple cranial nerve abnormalities. This paper also includes a literature review of similar cases.PMID:38510577 | PMC:PMC10951558 | DOI:10.5001/omj.2024.07 (Source: Oman Medical Journal)
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Shasthara Paneyala Harsha Sundaramurthy Sahana Panambur S C Nemichandra Vimala Colaco Sri Harsha Chalasani Source Type: research

Leiomyomatous Lesions of the Colon: Two Case Reports with Radiological Features, Pathological Correlations, and Literature Review
We report the radiological findings with pathological correlation and literature review of two cases of colonic leiomyomatous lesions that presented with nonspecific abdominal pain. The lesions were resected surgically and confirmed histopathologically as leiomyoma and leiomyosarcoma of the colon, respectively. To the best of our knowledge, these cases are the first of colonic leiomyomatous lesions to be reported in Oman.PMID:38510578 | PMC:PMC10951559 | DOI:10.5001/omj.2024.04 (Source: Oman Medical Journal)
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Asma Al Hatmi Ishaq Sulaiman Al-Salmi Mohammed Al-Masqari Atheel Kammona Source Type: research

A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient
Oman Med J. 2024 Jan 31;39(1):e599. doi: 10.5001/omj.2024.08. eCollection 2024 Jan.ABSTRACTInfantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000. The wide spectrum of symptoms and associated diseases makes the diagnosis of this disease particularly challenging. Here, we report a 12-year-old Bahraini male who presented with the core clinical features of IMNEPD including intellectual disability, global developmental delay, sensorineural hearing loss, endocrine dysfunction, and exocrine pancreatic insufficien...
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Hasan M Isa Sara D Khalaf Sara Janahi Mohamed M Naser Noor Al Hamad Hasan Alhaddar Maryam Busehail Source Type: research

Idiopathic Hypertension with Multiple Cranial Nerve Palsies: A Case Report and Literature Review
We report a rare case of idiopathic intracranial hypertension (IIH) with multiple cranial nerve palsies involving cranial nerves VI, VII, IX, and X in a 32-year-old female who had no prior comorbidities. Her condition improved rapidly on a ten-day regimen of acetazolamide and tablet topiramate. IIH should be considered in every patient presenting with persistent headache and multiple cranial nerve abnormalities. This paper also includes a literature review of similar cases.PMID:38510577 | PMC:PMC10951558 | DOI:10.5001/omj.2024.07 (Source: Oman Medical Journal)
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Shasthara Paneyala Harsha Sundaramurthy Sahana Panambur S C Nemichandra Vimala Colaco Sri Harsha Chalasani Source Type: research

Leiomyomatous Lesions of the Colon: Two Case Reports with Radiological Features, Pathological Correlations, and Literature Review
We report the radiological findings with pathological correlation and literature review of two cases of colonic leiomyomatous lesions that presented with nonspecific abdominal pain. The lesions were resected surgically and confirmed histopathologically as leiomyoma and leiomyosarcoma of the colon, respectively. To the best of our knowledge, these cases are the first of colonic leiomyomatous lesions to be reported in Oman.PMID:38510578 | PMC:PMC10951559 | DOI:10.5001/omj.2024.04 (Source: Oman Medical Journal)
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Asma Al Hatmi Ishaq Sulaiman Al-Salmi Mohammed Al-Masqari Atheel Kammona Source Type: research

A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient
Oman Med J. 2024 Jan 31;39(1):e599. doi: 10.5001/omj.2024.08. eCollection 2024 Jan.ABSTRACTInfantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000. The wide spectrum of symptoms and associated diseases makes the diagnosis of this disease particularly challenging. Here, we report a 12-year-old Bahraini male who presented with the core clinical features of IMNEPD including intellectual disability, global developmental delay, sensorineural hearing loss, endocrine dysfunction, and exocrine pancreatic insufficien...
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Hasan M Isa Sara D Khalaf Sara Janahi Mohamed M Naser Noor Al Hamad Hasan Alhaddar Maryam Busehail Source Type: research

Idiopathic Hypertension with Multiple Cranial Nerve Palsies: A Case Report and Literature Review
We report a rare case of idiopathic intracranial hypertension (IIH) with multiple cranial nerve palsies involving cranial nerves VI, VII, IX, and X in a 32-year-old female who had no prior comorbidities. Her condition improved rapidly on a ten-day regimen of acetazolamide and tablet topiramate. IIH should be considered in every patient presenting with persistent headache and multiple cranial nerve abnormalities. This paper also includes a literature review of similar cases.PMID:38510577 | PMC:PMC10951558 | DOI:10.5001/omj.2024.07 (Source: Oman Medical Journal)
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Shasthara Paneyala Harsha Sundaramurthy Sahana Panambur S C Nemichandra Vimala Colaco Sri Harsha Chalasani Source Type: research

Leiomyomatous Lesions of the Colon: Two Case Reports with Radiological Features, Pathological Correlations, and Literature Review
We report the radiological findings with pathological correlation and literature review of two cases of colonic leiomyomatous lesions that presented with nonspecific abdominal pain. The lesions were resected surgically and confirmed histopathologically as leiomyoma and leiomyosarcoma of the colon, respectively. To the best of our knowledge, these cases are the first of colonic leiomyomatous lesions to be reported in Oman.PMID:38510578 | PMC:PMC10951559 | DOI:10.5001/omj.2024.04 (Source: Oman Medical Journal)
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Asma Al Hatmi Ishaq Sulaiman Al-Salmi Mohammed Al-Masqari Atheel Kammona Source Type: research

A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient
Oman Med J. 2024 Jan 31;39(1):e599. doi: 10.5001/omj.2024.08. eCollection 2024 Jan.ABSTRACTInfantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000. The wide spectrum of symptoms and associated diseases makes the diagnosis of this disease particularly challenging. Here, we report a 12-year-old Bahraini male who presented with the core clinical features of IMNEPD including intellectual disability, global developmental delay, sensorineural hearing loss, endocrine dysfunction, and exocrine pancreatic insufficien...
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Hasan M Isa Sara D Khalaf Sara Janahi Mohamed M Naser Noor Al Hamad Hasan Alhaddar Maryam Busehail Source Type: research

Idiopathic Hypertension with Multiple Cranial Nerve Palsies: A Case Report and Literature Review
We report a rare case of idiopathic intracranial hypertension (IIH) with multiple cranial nerve palsies involving cranial nerves VI, VII, IX, and X in a 32-year-old female who had no prior comorbidities. Her condition improved rapidly on a ten-day regimen of acetazolamide and tablet topiramate. IIH should be considered in every patient presenting with persistent headache and multiple cranial nerve abnormalities. This paper also includes a literature review of similar cases.PMID:38510577 | PMC:PMC10951558 | DOI:10.5001/omj.2024.07 (Source: Oman Medical Journal)
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Shasthara Paneyala Harsha Sundaramurthy Sahana Panambur S C Nemichandra Vimala Colaco Sri Harsha Chalasani Source Type: research

Leiomyomatous Lesions of the Colon: Two Case Reports with Radiological Features, Pathological Correlations, and Literature Review
We report the radiological findings with pathological correlation and literature review of two cases of colonic leiomyomatous lesions that presented with nonspecific abdominal pain. The lesions were resected surgically and confirmed histopathologically as leiomyoma and leiomyosarcoma of the colon, respectively. To the best of our knowledge, these cases are the first of colonic leiomyomatous lesions to be reported in Oman.PMID:38510578 | PMC:PMC10951559 | DOI:10.5001/omj.2024.04 (Source: Oman Medical Journal)
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Asma Al Hatmi Ishaq Sulaiman Al-Salmi Mohammed Al-Masqari Atheel Kammona Source Type: research

A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient
Oman Med J. 2024 Jan 31;39(1):e599. doi: 10.5001/omj.2024.08. eCollection 2024 Jan.ABSTRACTInfantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000. The wide spectrum of symptoms and associated diseases makes the diagnosis of this disease particularly challenging. Here, we report a 12-year-old Bahraini male who presented with the core clinical features of IMNEPD including intellectual disability, global developmental delay, sensorineural hearing loss, endocrine dysfunction, and exocrine pancreatic insufficien...
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Hasan M Isa Sara D Khalaf Sara Janahi Mohamed M Naser Noor Al Hamad Hasan Alhaddar Maryam Busehail Source Type: research

Idiopathic Hypertension with Multiple Cranial Nerve Palsies: A Case Report and Literature Review
We report a rare case of idiopathic intracranial hypertension (IIH) with multiple cranial nerve palsies involving cranial nerves VI, VII, IX, and X in a 32-year-old female who had no prior comorbidities. Her condition improved rapidly on a ten-day regimen of acetazolamide and tablet topiramate. IIH should be considered in every patient presenting with persistent headache and multiple cranial nerve abnormalities. This paper also includes a literature review of similar cases.PMID:38510577 | PMC:PMC10951558 | DOI:10.5001/omj.2024.07 (Source: Oman Medical Journal)
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Shasthara Paneyala Harsha Sundaramurthy Sahana Panambur S C Nemichandra Vimala Colaco Sri Harsha Chalasani Source Type: research

Leiomyomatous Lesions of the Colon: Two Case Reports with Radiological Features, Pathological Correlations, and Literature Review
We report the radiological findings with pathological correlation and literature review of two cases of colonic leiomyomatous lesions that presented with nonspecific abdominal pain. The lesions were resected surgically and confirmed histopathologically as leiomyoma and leiomyosarcoma of the colon, respectively. To the best of our knowledge, these cases are the first of colonic leiomyomatous lesions to be reported in Oman.PMID:38510578 | PMC:PMC10951559 | DOI:10.5001/omj.2024.04 (Source: Oman Medical Journal)
Source: Oman Medical Journal - March 21, 2024 Category: Middle East Health Authors: Asma Al Hatmi Ishaq Sulaiman Al-Salmi Mohammed Al-Masqari Atheel Kammona Source Type: research