Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis

Lee, Angela J.; Cortez, Samuel; Yang, Peter; Aum, Diane J.; Singh, Prapti; Gooch, Catherine; Smyth, Matthew D.

doi:10.1007/s00381-021-05345-y

Cited by 4 publications

(7 citation statements)

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“…Radiographic findings of IMOP include a significant bone density increase and malfunctioning metaphyseal remodelling in long bones. Brain MRI findings of IMOP include severely delayed myelination and diffuse progressive cortical and subcortical atrophy, as seen in our patient [ 1 , 3 ]. BMA biopsy can differentiate between osteoclast-poor and osteoclast-rich variants of IMOP; our patient's BMA biopsy revealed infrequent osteoclasts [ 1 ].…”

Section: Discussionmentioning

confidence: 57%

“…Milder forms of autosomal recessive osteopetrosis are caused by mutations in the PLEKHM1 (Pleckstrin homology domain-containing family M member 1) gene [ 5 ]. Up to two-thirds of these patients die before age six, and many recurrent infections, especially pneumonia or osteomyelitis, complicated by septicemia, are the leading causes of death [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Some patients with autosomal recessive osteopetrosis variants (neuropathic ARO) exhibit signs of principal neurodegeneration, such as seizures with normal calcium levels, growth retardation, hypotonia, retinal atrophy, and neural hearing deafness, in addition to these compressive occurrences [ 7 ]. Children with IMOP likely develop Rickets and hypocalcemia, leading to tetanic seizures and secondary hyperparathyroidism [ 3 , 5 ]. Except for seizure, our patient had hearing deafness, visual impairment, hypocalcemia, and rickets.…”

Section: Discussionmentioning

confidence: 99%

“…Treating patients with osteopetrosis necessitates a comprehensive approach to the underlying clinical issues, including hematological and biochemical abnormalities, recurrent infections, bone consequences, and neurodevelopmental morbidities [ 3 , 9 ]. HSCT is currently the only cure option for IMOP; it should be performed as soon as possible to avoid irrevocable neurologic and cognitive deficits [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by increased bone density due to osteoclastic failure in differentiation or function, which prevents normal bone resorption and remodelling [ 1 ]. IMOP includes various clinical features, including hematologic and neurological manifestations, and is usually diagnosed based on clinical, radiologic, and BMA evaluations [ 1 , 3 ]. There are limited reports in the literature regarding IMOP, especially in a resource-limited setting [ 1 - 4 ].…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Malignant infantile osteopetrosis in 3-year-old Yemeni child: a case report

Thabet¹,

Almajeedi²,

Mohammed³

et al. 2022

Pan Afr Med J

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Infantile malignant osteopetrosis (IMOP) is a rare bone resorptive disorder with an autosomal recessive inheritance pattern. It is characterized by increased bone density due to osteoclastic failure in differentiation or function. The clinical manifestations of IMOP start at birth or infancy with varied rings according to the type and degree of osteopetrosis. We presented a 3-year-old female patient referred to us due to chronic anaemia six months ago. The physical examination revealed hepatosplenomegaly, axial hypotonia, and visual impairment. Blood investigation revealed pancytopenia and hypocalcemia. Radiologic studies revealed a generalized increase in bone density, abnormal metaphyseal remodelling, and rain atrophy. The bone marrow aspiration (BMA) shows dry tap and hypocellularity of all cell lines. IMOP was diagnosed depending on clinical, radiologic, and BMA results. In conclusion, IMOP is relatively uncommon. Accurate diagnosis should be made through clinical, BMA, and radiologic investigations, especially in a resource-limited setting, as performed in our case.

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Section: Discussionmentioning

confidence: 57%

Section: Discussionmentioning

confidence: 99%