Haemolytic Anaemia in Osteopetrosis: A Report of Two Cases

Gamsu, H R; Lorber, John; Rendle-Short, John

doi:10.1136/adc.36.189.494

Cited by 17 publications

(6 citation statements)

References 5 publications

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“…The finding of normal pituitary function in the patients whom we studied agrees with autopsy findings in this disease [5,7,18,27,34,38,44], though Kraus and Walter [28] described histological abnormalities in the pituitary of their patient, and Schmidt [42] noted enlargement of the pituitary in 1 case.…”

Section: Strabismus Is Common In Childhood Cases and May Be Secondarysupporting

confidence: 82%

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Neurological complications of infantile osteopetrosis

Lehman

Reeves

Wilson

et al. 1977

Annals of Neurology

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Seven cases of infantile osteopetrosis are presented. Five of these were available for detailed clinical examination and 2 for retrospective review, including autopsy slides. Neurological deficits in these patients are reviewed. Involvement of the central nervous system parenchyma was suggested by observations of delayed development, ocular abnormalities, and reflex changes as well as radiographic and autopsy findings. Cerebral atrophy was present in several of our patients as well as some reported in the literature and may account for the ventricular enlargement found in many of these patients. Though hydrocephalus may be present, it is unclear that this is frequent or that it can occur without antecedent intracranial hemorrhage. The large head size is not accounted for by calvarial thickening or by hydrocephalus. Despite our patients' small stature, pituitary function appeared to be normal. Surgical decompression may stabilize cranial nerve function, particularly when the optic nerves are involved.

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Section: Strabismus Is Common In Childhood Cases and May Be Secondarysupporting

confidence: 82%

“…This has been subdural [5,7,9,11,28,37,46], subarachnoid [34], orintraparenchymal [18]. At least 3 of these cases were thrombocytopenic [5,7, 181, as was our autopsied case with subarachnoid hemorrhage.…”

Section: Strabismus Is Common In Childhood Cases and May Be Secondarymentioning

confidence: 91%

Neurological complications of infantile osteopetrosis

Lehman

Reeves

Wilson

et al. 1977

Annals of Neurology

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“…Cranial nerve palsies are due to compression of the cranial nerves within the narrowed basal foramina [3]. Blindness with optic atrophy can be due to narrowing of the optic canal, but other causes have been invoked Cerebrovascular complications can be hemorrhagic [2,[4][5][6] or occlusive [6]. In our case, stenosis and occlusions of the carotid arteries were similar to those reported by Makin et al [6].…”

Section: Discussionsupporting

confidence: 83%

“…Clinical manifestations include pathological fractures, anemia and cranial nerve palsies [2][3][4][5]. Recently, occlusions of major cerebral arteries and veins were reported as a complication of the hypertrophic skeletal sclerosis but without ischemic neurological deficit [6].…”

mentioning

confidence: 99%

Cerebrovascular occlusive complications in osteopetrosis major

et al. 1990

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We report the case of a 16-year-old patient with osteopetrosis major, complaining of transient sensory and motor disturbances in the left upper limb and dizziness on changing the position of his head. Selective angiography of the cerebral vessels showed severe narrowing of the internal carotid artery within the petrous carotid canal and in its supraclinoid portion. The cervical vertebral arteries showed multiple stenosis within the vertebral canal. These findings are explained by narrowing of the basal foramina by the osteopetrotic bone.

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“…A decrease in the number of red blood cells may result in an anemia disorder. Previous literature showed a positive correlation between osteopetrosis and anemia disorder (Fischer et al, 1991;Gamsu et al, 1961;Lees and Sautter, 1979;Saluja et al, 2009;Sreehari et al, 2011). Our quantitative study of abnormal aging mice suggests that the anemia disorder may be directly linked to the internal expansion of cortical bones at diaphysis.…”

Section: Discussionsupporting

confidence: 58%