A case of infantile osteopetrosis: The radioclinical features with literature update.
BACKGROUND
Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable.


METHODS
Therefore, in this case study the classical clinical and radiological signs of a boy with infantile osteopetrosis will be presented with a comprehensive literature update. The differentiating signs from other causes of hereditary osteosclerosing dysplasias are discussed.


RESULTS
This case study and review of available literature show that there tends to be a highly unique clinical and skeletal radiographic pattern of affection in infantile osteopetrosis.


CONCLUSIONS
Although tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.
Department of Orthopaedic Surgery, Division of Paediatric Orthopaedics, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
Tamer Ahmed
TA
El-Sobky
Division of Medical Genetics, Department of Paediatrics, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
Ezzat
E
Elsobky
Department of Paediatrics, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
Ismaiel
I
Sadek
Division of Medical Genetics, Department of Paediatrics, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
Solaf M
SM
Elsayed
Department of Orthopaedic Surgery, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
Mohamed Fawzy
MF
Khattab
Malignant autosomal recessive; Osteoclasts; Osteosclerosing dysplasia; Skeletal imaging