Osteopetrosis in two siblings: two case reports

Abstract

BackgroundOsteopetrosis is a rare inherited metabolic bone disorder characterized by extensive sclerosis of skeletons, visual and hearing impairment, hepatosplenomegaly and anemia. It has two major clinical forms: the autosomal dominant adult (benign) form is associated with milder symptoms often appearing in later childhood and adulthood whereas the autosomal recessive infantile (malignant) form has severe presentations appearing in very early childhood, if untreated, is typically fatal during infancy or early childhood. A rare autosomal recessive (intermediate) form is present during childhood with some signs and symptoms of malignant osteopetrosis. Diagnosis is mainly based on clinical and typical generalized increase in bone density.Case presentationThe two siblings of Indo-Aryan ethnicity, aged five and 8 years, were admitted with irregular low grade fever and gradually increasing abdominal mass for last 3 years. They also had history of hearing loss. On examination, the patients were found pale with poor nutritional status, short stature, frontal bossing and splenomegaly. We made a clinical diagnosis of hemolytic anemia and investigated accordingly. Peripheral Blood Smear was suggestive of leucoerythroblastic picture in both the siblings. We extended our investigations and radiological survey revealed generalized increase in bone density which was consistent with osteopetrosis.ConclusionOsteopetrosis is a rare disease transmitted by autosomal dominant or recessive inheritance having variable penetrance. We report here milder form of disease in the two siblings having typical clinical features in the form of anemia, hepatosplenomegaly and hearing loss. Diagnosis was confirmed by typical generalized increase in bone density in both the patients.

Malignant infantile osteopetrosis with rickets presenting with bicytopenia in septic shock: case report

“…MRI brain may show delayed myelination with diffuse progressive cortical and subcortical atrophy. 2,3 Characteristic radiographic findings in osteopetrosis include a marked increase in bone density with defective metaphyseal remodeling, and "bone within a bone" appearance. Alternating sclerotic and lucent bands can give the vertebrae a 'sandwich 'appearance.…”

Osteomielite maxilar aguda em paciente acometido por osteopetrose infantil maligna: relato de um caso raro de sobrevida

“…Como o paciente possuía dados laboratoriais compatíveis com doença avançada, isto é, com contagem de plaquetas chegando a menos de 30.000 por mm³, e com presença de epistaxe e sangramento pelo traqueóstomo, a equipe de cirurgia bucomaxilar do HIAS sugeriu a manutenção da antibioticoterapia intravenosa, apesar de não ser o tratamento padrão, e contraindicou qualquer intervenção cirúrgica 15 .…”

“…A principal consequência da densificação óssea é a falência medular, que leva o paciente a ter pancitopenia e a necessitar de hematopoiese extramedular, com posterior desenvolvimento de hepatoesplenomegalia 15 . Em fase mais avançada, o indivíduo chega a ter aplasia da medula óssea, e o óbito na primeira década de vida geralmente se dá por infecções secundárias à neutropenia, por sangramentos secundários à trombocitopenia ou por anemia grave 9 .…”

Gincana Da Saúde: Ampliação Do Conceito De Saúde E Bem-Estar

“…Geralmente aparece com esclerose difusa afetando crânio, pelve, coluna e ossos apendiculares, e também defeito na modelação metafisária dos ossos longos, similando a aparência de um funil (STARK;SAVARIRAYAN, 2009). O tratamento é realizado apenas por meio de transplante de medula óssea, cujo doador precisa ter HLA compatível 100% (YADAV et al, 2016). Ocorre um reestabelecimento da hematopoese, melhorando as lesões ósseas e impedindo que a doença progrida.…”