scholarly journals Bartsocas-Papas Syndrome: Case Report

2022 ◽  
pp. 1-4
Author(s):  
Fareeda Nikhat ◽  
Shalini Dolly Fernandes ◽  
Nabilah Mashharawi ◽  
Shadha Bahutair
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Severe Form ◽  
Rare Form ◽  
History Of ◽  
The Mediterranean

Bartsocas-Papas syndrome (BPS) is a rare form of autosomal recessive disease, which is often severe and most of the time lethal. Only a few cases have been reported in the literature, so far mainly from the Mediterranean ancestry. We are describing here a case of severe form of BPS, which we encountered in our hospital in Dubai, UAE, which was diagnosed by antenatal scan; the baby had typical features of BPS and died immediately within few hours of life. Parents were first-degree consanguineous couples, and there was a family history of this disorder.

Megaloblastic Anemia Characterized by Microcytosis: Imerslund-Grasbeck Syndrome With Coexistent α-Thalassemia

PEDIATRICS ◽  
1988 ◽  
Vol 81 (6) ◽  
pp. 875-876
Author(s):  
CAROLYN L. RUSSO ◽  
PAUL E. HYMAN ◽  
RONALD S. OSEAS
Keyword(s):  
Case Report ◽  
Family History ◽  
Vitamin B12 ◽  
Autosomal Recessive ◽  
Chronic Diarrhea ◽  
Megaloblastic Anemia ◽  
Microcytic Anemia ◽  
History Of ◽  
Autosomal Recessive Condition ◽  
Vitamin B12 Malabsorption

Imerslund-Grasbeck syndrome is a hereditary autosomal recessive condition of selective vitamin B12 malabsorption in the terminal ileum, resulting in chronic megaloblastic anemia.1,2 The purpose of this report is to describe a child with coincident Imerslund-Grasbeck syndrome and α-thalassemia, who also had a vitamin B12-sensitive microcytic anemia. CASE REPORT When R.S. was 15 months of age his mother reported that progressive anorexia and lethargy had developed. There was no history of chronic diarrhea, vomiting, frequent infections, or pica; there was no family history for blood dyscrasias. R.S. was a black boy who weighed 8.3 kg (less than the fifth percentile); his length was 74 cm (less than the fifth percentile), and his head circumference was 45 cm (second percentile).

Gallbladder Paraganglioma: A Case Report With Review of the Literature

2005 ◽  
Vol 129 (4) ◽  
pp. 523-526 ◽  
Author(s):  
Shveta Mehra ◽  
Moonja Chung-Park
Keyword(s):  
Case Report ◽  
Retrospective Study ◽  
Family History ◽  
Gastrointestinal Bleeding ◽  
Biliary System ◽  
Rare Tumor ◽  
Review Of The Literature ◽  
Quadrant Pain ◽  
Endocrine Neoplasia ◽  
History Of

Abstract We report a case of gallbladder paraganglioma that was discovered during nonrelated surgery. Retrospective study disclosed a family history of pheochromocytoma. The occurrence of gallbladder paraganglioma in the presence of family history of endocrine neoplasia supports that gallbladder paraganglioma may indeed occur as a part of the multiple endocrine neoplasm syndrome. Gallbladder paraganglioma is a rare tumor, and so far to our knowledge only 6 cases have been reported in the literature. Three cases were discovered incidentally during cholecystectomy for cholelithiasis, 2 presented with right upper quadrant pain, and 1 manifested with gastrointestinal bleeding. We herein review all reported cases of paraganglioma of gallbladder and biliary system.

scholarly journals Neuroleptics and family history of Parkinson diseases: case report

2001 ◽  
Vol 7 (3) ◽  
pp. 559-561
Author(s):  
G. Theodoulou ◽  
G. Milner ◽  
A. Jumaian
Keyword(s):  
Case Report ◽  
Family History ◽  
History Of ◽  
Parkinson Diseases

Case Report-Loyalty, Legacy, and Ledger: Contextual Therapy in a Patient with a Family History of Ovarian Cancer

1999 ◽  
Vol 8 (6) ◽  
pp. 359-372 ◽  
Author(s):  
Tamsen Caruso Brown ◽  
Judy Garber ◽  
Michael Muto ◽  
Katherine A. Schneider
Keyword(s):  
Ovarian Cancer ◽  
Case Report ◽  
Family History ◽  
Contextual Therapy ◽  
History Of

HEREDITARY AND ENVIRONMENTAL FACTORS IN THE PATHOGENESIS OF RHEUMATIC FEVER

PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond
Keyword(s):  
Family History ◽  
Rheumatic Fever ◽  
Autosomal Recessive ◽  
Positive Family History ◽  
Recessive Gene ◽  
Environmental Groups ◽  
Environmental Group ◽  
The Family ◽  
History Of ◽  
Unfavorable Environmental Factor

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.

Sudden, Unexpected Death Associated with Meningioangiomatosis: Case Report

2005 ◽  
Vol 8 (2) ◽  
pp. 240-244 ◽  
Author(s):  
Chris Wixom ◽  
Amy E. Chadwick ◽  
Henry F. Krous
Keyword(s):  
Case Report ◽  
Family History ◽  
Postmortem Examination ◽  
Sudden Unexpected Death ◽  
Healthy Male ◽  
Orbital Frontal Cortex ◽  
Unexpected Death ◽  
Microscopic Features ◽  
History Of ◽  
The Right

We report a case of sudden, unexpected death associated with meningioangiomatosis in a 13-year-old, previously healthy male without a history of seizures, neurologic deficits, or clinical stigmata of neurofibromatosis. There was no family history of neurofibromatosis. The postmortem examination showed a 5-cm mass involving the right posterior frontal and orbital frontal cortex that had microscopic features diagnostic of meningioangiomatosis. Because no other cause of death was found, we postulate that he likely died as a result of a seizure secondary to meningioangiomatosis.

Moderate Grade Astrocytoma Presenting in a 4-Month-Old Child with a Family History of von Recklinghausen's Neurofibromatosis Spanning Four Generations: A Case Report

Neurosurgery ◽  
1983 ◽  
Vol 13 (6) ◽  
pp. 692-694
Author(s):  
Nancy E. Epstein ◽  
Alan D. Rosenthal ◽  
Jay Selman ◽  
Michael Osipoff ◽  
Roger A. Hyman
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
History Of ◽  
Thalamic Glioma ◽  
Von Recklinghausen's Neurofibromatosis ◽  
Neonatal Lesions ◽  
Von Recklinghausen’S Neurofibromatosis

Abstract Intracranial gliomas are found in association with von Recklinghausen's neurofibromatosis. However, few truly neonatal lesions have been identified and studied. This case report concerns a 4-month-old child who was found to have a massive thalamic glioma of moderate grade. Four paternal generations had suffered from different manifestations of this transmissible autosomal-dominant (Ad) phakomatosis.

Pre-Pubertal Depressive Stupor: A Case Report

1988 ◽  
Vol 153 (5) ◽  
pp. 689-692 ◽  
Author(s):  
J. C. Powell ◽  
W. R. Silveira ◽  
R. Lindsay
Keyword(s):  
Case Report ◽  
Family History ◽  
Affective Disorder ◽  
Dexamethasone Suppression Test ◽  
Clinical State ◽  
Affective Illness ◽  
History Of ◽  
Suppression Test ◽  
Dexamethasone Suppression ◽  
Maternal Side

A case of childhood affective disorder with episodes of depressive stupor in a 13-year-old pre-pubertal boy is described. Changes in the patient's clinical state were accompanied by changes in the dexamethasone suppression test. A family history of affective illness on the maternal side, with phenomenological similarities, is noted.

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