Variant of bohring-opitz syndrome: A rare case report

2021 ◽  
Vol 4 (2) ◽  
pp. 84-86
Author(s):  
Ramesh Choudhary ◽  
Romesh Gauttam ◽  
Vishnu Pansari ◽  
Anand Kumawat
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Medical Literature ◽  
Male Child ◽  
Rare Syndrome ◽  
First Case ◽  
Eventration Of Diaphragm ◽  
Rare Case Report ◽  
Opitz Syndrome

Bohring–Opitz syndrome also known as Opitz C syndrome or Oberklaid–Danks syndrome is a rare syndrome. We are reporting a 2 months old male child with Bohring-Opitz like syndrome with all classical features and eventration of diaphragm   (left side) which has not  been reported yet with this syndrome.  To our knowledge, a total of 23 cases with this syndrome have been reported in the medical literature to date and this is probably the first case report from India. Although there is overlap, a clinical distinction from the Bohring-Opitz syndrome and other syndromes seems possible, and thus a specific causal entity may be postulated.

A rare case report of corrected transposition of the great arteries in association with tuberous sclerosis and cardiac rhabdomyomas

2013 ◽  
Vol 24 (5) ◽  
pp. 955-957
Author(s):  
Rajiv Garg ◽  
Bhavesh Thakkar ◽  
Nilesh Oswal
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Rare Case ◽  
Male Child ◽  
Rare Association ◽  
Rare Case Report ◽  
Congenitally Corrected Transposition ◽  
Corrected Transposition

AbstractThe neuro-cutaneous syndrome tuberous sclerosis is commonly associated with rhabdomyomas in various organs including the heart. We are reporting a rare case of a 7-month old male child with congenitally corrected transposition of the great arteries associated with tuberous sclerosis and cardiac rhabdomyomas. To our knowledge, this rare association has not been reported so far.

scholarly journals Dysembryoplastic neuropithelial tumor: a rare case report

2017 ◽  
Vol 5 (5) ◽  
pp. 2270
Author(s):  
Shailesh Thanvi ◽  
Hemant Jangid ◽  
Yogi Raj Joshi
Keyword(s):  
Young Adults ◽  
Case Report ◽  
Rare Case ◽  
Male Child ◽  
Adjuvant Chemoradiotherapy ◽  
Rare Entity ◽  
Intractable Seizures ◽  
Rare Case Report ◽  
Children And Young Adults ◽  
Space Occupying Lesion

Dysembryoplastic neuropithelial tumor (DNET) is a rare recently described, benign glioneural tumor frequently associated with intractable seizures in children and young adults which is important to recognise clinically and radiologically as it is surgically curable without need for adjuvant chemoradiotherapy. We hereby present a case report of a 10year old male child who presented with intractable seizures and right parietal space occupying lesion which was diagnosed DNET radiologically, treated by microsurgical excision and confirmed histopathologically as DNET, thus emphasising multidisciplinary role in management of this rare entity.

scholarly journals Rowell Syndrome in a 4-Year-Old Male Child: A Rare Case Report

2019 ◽  
Vol 3 (7) ◽  
pp. 224-226
Author(s):  
Sukhmani Brar ◽  
Jayati Batra ◽  
Balvinder Kaur Brar
Keyword(s):  
Case Report ◽  
Erythema Multiforme ◽  
Lupus Erythematosus ◽  
Rare Case ◽  
Male Child ◽  
Disease Entity ◽  
Middle Aged ◽  
Rare Case Report

Rowell syndrome is an unusual disease entity characterized by the occurrence of erythema multiforme(EM) in association with lupus erythematosus(LE). The syndrome occurs mostly in middle aged women. We are reporting this case in a 4 year old child.

scholarly journals Multicentric Chondrosarcoma Involving the Appendicular Skeleton: A Case Report and Literature Review.

2020 ◽  
Vol 27 (5) ◽  
Author(s):  
V. Aran ◽  
W. Meohas ◽  
A.C. De Sá Lopes ◽  
L. Maciel Cabral ◽  
A. Fortuna Costa ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rare Case ◽  
Medical Literature ◽  
Good Prognosis ◽  
Appendicular Skeleton ◽  
Rare Case Report ◽  
Primary Bone ◽  
Uncommon Case

Chondrosarcomas constitute the 3rd most common primary bone malignancy. These tumours grow slowly and rarely metastasize, usually having a good prognosis after surgery. Among patients registered and treated at the Brazilian National Institute of Traumatology and Orthopedics, an uncommon case of chondrosarcoma was identified in a 63-year-old man, who was diagnosed with multicentric chondrosarcoma of the appendicular skeleton. This example is atypical in the medical literature because multicentric tumours are different from metastatic events, and their frequency in chondrosarcoma is rare. This article therefore provides a rare case report alongside a review of additional cases in the medical literature.

scholarly journals Juvenile Polyposis Syndrome in a Young Patient: A Rare Case Report

2018 ◽  
Vol 3 (2) ◽  
pp. 492-494
Author(s):  
Yamuna Agrawal ◽  
Rajan Shah ◽  
Brikh Raj Joshi ◽  
Vivek Kattel
Keyword(s):  
Case Report ◽  
Young Patient ◽  
Rare Case ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Rare Syndrome ◽  
Rare Case Report ◽  
Malignant Condition

Juvenile polyposis syndrome prevalence is 1 in 16,000 to 1 in 100,000 which usually present at the age of 20 years. The tumor is likely to change into malignant condition in 20% of cases. Here we present this rare syndrome in a 16-year boy. BJHS 2018;3(2)6:492-494.

Natal tooth in a seven months premature male child: A rare case report

2013 ◽  
Vol 3 (2) ◽  
pp. 182 ◽  
Author(s):  
KanikaG Verma ◽  
Pradhuman Verma ◽  
Navneet Singh ◽  
SureshK Sachdeva
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Male Child ◽  
Rare Case Report

scholarly journals Idiopathic aplastic anemia: a rare case report in Jammu and Kashmir region, India

2019 ◽  
Vol 8 (6) ◽  
pp. 2559
Author(s):  
Smriti Sharma ◽  
Upma . ◽  
Deep Mani
Keyword(s):  
Case Report ◽  
Aplastic Anemia ◽  
Rare Case ◽  
Immunosuppressive Agents ◽  
Unknown Origin ◽  
Normal Incidence ◽  
Jammu And Kashmir ◽  
First Case ◽  
Rare Case Report ◽  
Life Threatening

Idiopathic aplastic anemia is a pancytopenia disorder that is a rare but life threatening for both mother and fetus during pregnancy. Association of aplastic anemia with pregnancy is unclear but considered to be interrelated. Bone marrow transplantation is the most effective treatment for adult aplastic anemia but is inadvisable to perform during pregnancy because of the teratogenic effect of immunosuppressive agents or radiation therapy to the growing fetus. Supportive care, withdrawal from offending drugs and involving erythrocytes and platelets transfusion is a promising way to save the life. Here author present a case report of 36-year-old lady with idiopathy aplastic anemia. In this case medical investigation revealed severe anemia of unknown origin. The patient was treated with hematinics, blood transfusion and glucocorticoids. A healthy baby was delivered without evidence of hemolysis at her eight month and one week of pregnancy, the patient recovered and discharged with normal incidence. Being a rare case, it becomes a necessity to report such life-threatening disorder and management. Moreover, to our knowledge this is the first case reported of its kind from Jammu and Kashmir Division of India.

scholarly journals Extrahepatic undifferentiated embryonal sarcoma, cytology as an accurate method for early diagnosis: an extremely rare case report in an Indian child

2019 ◽  
Vol 7 (8) ◽  
pp. 3175
Author(s):  
Nupur Rastogi ◽  
R. K. Tanwar ◽  
B. Saxena
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Rare Case ◽  
Normal Liver ◽  
Accurate Method ◽  
First Case ◽  
Mesenchymal Neoplasm ◽  
Rare Case Report ◽  
Upper Abdominal ◽  
Embryonal Sarcoma

Undifferentiated embryonal sarcoma has been described in the liver, a rare malignant mesenchymal neoplasm, that occurs primarily in children and teenagers. Approximately 260 cases have been reported arising in the liver since 1978 when this disease was first described. Its pathogenesis is still obscure. Authors presented a case of extrahepatic undifferentiated embryonal sarcoma in a 9-year-old female presenting with upper abdominal dull pain. Ultrasound and CT Scan showed normal liver architecture, with liver pushed upwards due to compression by tumor arising in the retroperitoneum. To the best of our knowledge, this is first case of extrahepatic undifferentiated embryonal sarcoma diagnosed on cytomorphology and confirmed by histopathology and immunohistochemistry markers.

scholarly journals Understanding the “Empty Toe” Phenomenon: A Rare Case Report

2021 ◽  
Vol 111 (2) ◽  
Author(s):  
Nicholas V. DiMassa ◽  
Erik K. Monson ◽  
Kimberly S. Cravey
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Medical Literature ◽  
Review Of The Literature ◽  
Detailed Review ◽  
Soft Tissue Envelope ◽  
Degloving Injury ◽  
Rare Case Report ◽  
Closed Degloving Injury ◽  
Closed Degloving

Closed degloving injury involving a toe represents a rare phenomenon in which the bones of the toe dislocate but the soft-tissue envelope remains intact. It has been described sparingly throughout the medical literature, and outcomes have been poor. This article presents a case report of the unique injury while also investigating trends through a detailed review of the literature.

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