scholarly journals Osteopetro-Rickets: A Rare Paradoxical Association in an Infant

2012 ◽  
Vol 32 (1) ◽  
pp. 88-89
Author(s):  
MB Patil
Keyword(s):  
Case Report ◽  
Key Words ◽  
Bone Disease ◽  
Clinical Signs ◽  
Severe Anaemia ◽  
Management Options ◽  
Positive Balance ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis ◽  
Key Words Osteopetrosis

Infantile malignant osteopetrosis is a hereditary bone disease with intense positive balance of body calcium. Osteopetro-rickets is a very rare paradoxical association of infantile osteopetrosis and rickets. This is a case report of an infant with osteopetro- rickets. He presented with severe anaemia, splenomegaly, hepatomegaly and clinical signs of rickets. The clinical, biochemical and skeletal survey showed osteopetrosis and rickets. We also describe the pathophysiologic mechanism and various management options. Key words: Osteopetrosis; Osteopetro-rickets; Rickets DOI: http://dx.doi.org/10.3126/jnps.v32i1.5292 J. Nepal Paediatr. Soc. Vol.32(1) 2012 88-89

scholarly journals Infantile malignant osteopetrosis: A case report of three siblings

2013 ◽  
Vol 6 (2) ◽  
pp. 184
Author(s):  
Sahil Jain ◽  
Vineeta Pande ◽  
GeetaR Karambelkar ◽  
SharadR Agarkhedkar
Keyword(s):  
Case Report ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis

scholarly journals Malignant Osteopetrosis, a Rare Cause of Bicytopenia in Infants: A Case Report

2021 ◽  
pp. 69-76
Author(s):  
Karima Larbi Ouassou ◽  
Abdelilah Radi ◽  
Amal Hassani ◽  
Rachid Abilkassem ◽  
Aomar Agadr
Keyword(s):  
Case Report ◽  
Bone Disease ◽  
Metabolic Bone Disease ◽  
Marrow Transplant ◽  
Functional Abnormality ◽  
Radiological Criteria ◽  
Metabolic Bone ◽  
Bone Damage ◽  
Malignant Osteopetrosis

Osteopetrosis is an autosomal metabolic bone disease caused by a functional abnormality of the osteoclasts. Two main forms exist, the dominant benign form and the recessive malignant form. We describe in our patient the recessive malignant form retained according to all the clinical, biological and especially radiological criteria. We also report in this work the elements of description of the disease in the literature in comparison with the data of our patient, which allows us to emphasize the severity of the ocular and bone damage requiring an early marrow transplant which alone seems to cure the disease.

Ectodermal Dysplasia in two siblings: A Case report.

2019 ◽  
Author(s):  
CHAITHRA KALKUR ◽  
NILOFER HALIM ◽  
ANUSHA RANGARE ◽  
Rumisha .
Keyword(s):  
Case Report ◽  
Key Words ◽  
Clinical Features ◽  
Ectodermal Dysplasia ◽  
Heterogeneous Group ◽  
Eccrine Glands ◽  
Key Words Ectodermal Dysplasia

Ectodermal dysplasia is a heterogeneous group of inherited disorder affecting two or more ectodermally derived tissues such as skin, hair, nails, eccrine glands and teeth. The disorder is of two types: Hypohydrotic ectodermal dysplasia/Christ seimens –Touraine syndrome and Hydrotic ectodermal dysplasia/clousten syndrome. Commonly associated signs include hypohidrosis, anomalous dentition, onychodysplasia, hypotrichosis. Multidisciplinary approaches are required for optimal treatment3. Here, we present two cases of 19 and 13 year old male siblings who were diagnosed with the disorder based upon their clinical features. Key Words: ectodermal dysplasia, hypodontia; anomalous dentition.

OBTURATOR HERNIA: A CASE REPORT

2016 ◽  
pp. 106-109
Author(s):  
Hoang Minh Thi Nguyen ◽  
Huu Tri Nguyen ◽  
Thanh Thao Nguyen
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Intestinal Obstruction ◽  
Key Words ◽  
Clinical Manifestation ◽  
Elderly Women ◽  
Obturator Hernia ◽  
Abdominal Hernia ◽  
Mechanical Obstruction

Obturator hernia is a rare pelvic hernia which accounts for 1% of all abdominal hernia. Clinical manifestation is ussually unspecific. Obturator hernia is often diagnosed by computed tomography or ultrasound. We present a case of obturator hernia in an elderly women who was successfully diagnosed and treated at Hue Univeristy of Medicine and Pharmacy. Key words: obturator hernia, mechanical obstruction, intestinal obstruction, Richter obturator hernia, strangulation

Surgical management of choke through oesophagotomy in a buffalo: A case report

2017 ◽  
Vol 12 (3) ◽  
Author(s):  
Devasee Borakhatariya ◽  
A. B. Gadara
Keyword(s):  
Case Report ◽  
Surgical Management ◽  
Clinical Presentation ◽  
Clinical Signs ◽  
Thoracic Inlet ◽  
Cervical Oesophagus ◽  
Foreign Objects ◽  
History Of ◽  
Oesophageal Obstruction ◽  
Large Animals

Oesophageal disorders are relatively uncommon in large animals. Oesophageal obstruction is the most frequently encountered clinical presentation in bovine and it may be intraluminal or extra luminal (Haven, 1990). Intraluminal obstruction or “choke” is the most common abnormality that usually occurs when foreign objects, large feedstuff, medicated boluses, trichobezoars, or oesophageal granuloma lodge in the lumen of the oesophagus. Oesophageal obstructions in bovine commonly occur at the pharynx, the cranial aspect of the cervical oesophagus, the thoracic inlet, or the base of the heart (Choudhary et al., 2010). Diagnosis of such problem depends on the history of eating particular foodstuff and clinical signs as bloat, tenesmus, retching, and salivation

scholarly journals Severe bone disease caused by primary hyperparathyroidism: a case report and review of the literature

2020 ◽  
Vol 48 (10) ◽  
pp. 030006052096648
Author(s):  
Yu Wang ◽  
Jie Liu
Keyword(s):  
Case Report ◽  
Primary Hyperparathyroidism ◽  
Bone Disease ◽  
Distal Humerus ◽  
Left Lobe ◽  
Pathological Examination ◽  
Hypoechoic Mass ◽  
Brown Tumors ◽  
Restricted Mobility ◽  
The Right

Bone disease is an important complication of hyperparathyroidism. We herein report a rare case of severe bone disease caused by primary hyperparathyroidism. A 33-year-old man presented with pain and restricted mobility in his right upper limb and right hip due to a fall 3 days previously. X-ray examination showed a fracture of the proximal and distal humerus. Computed tomography examination showed a supracondylar fracture of the right humerus, a fracture of the right femoral neck, a fracture of the right sciatic branch, and multiple brown tumors. Ultrasonography showed a 3.5- × 1.6-cm hypoechoic mass below the left lobe of the thyroid. The patient was diagnosed with primary hyperparathyroidism based on increased serum calcium and parathormone concentrations, pathological fractures, and multiple brown tumors. He therefore underwent bilateral lower parathyroidectomy. Pathological examination revealed a parathyroid adenoma. The patient recovered well after surgery and was followed up for 6 months with no symptoms of hyperparathyroidism. This case report suggests that clinicians should be aware of the possibility of severe bone disease secondary to primary hyperparathyroidism. Active and early diagnosis and surgical treatment are important in such cases.

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