Lessons from a case of osteopetrosis oxycephaly and Chiari type I malformation: a case report

Jamjoom, Aimun A B; Jamjoom, Bakur A.; Waliuddin, Abrar R; Jamjoom, Abdulhakim B.

doi:10.4076/1757-1626-2-6787

Cited by 16 publications

(15 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[22] Searching the literature indicated that the combination of the three abnormalities together (OP, CM1, and CS) was mentioned only once, with no mentioned genetic studies. [4]…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation

2013

View full text Add to dashboard Cite

We report a case of a 9-month-old Arab infant, with novel OSTEM mutation and unpublished triad of osteopetrosis (OP), craniosynostosis (CS), and Chiari malformation type I (CM1). The index presented with progressive irritability, abnormal movements, following an accidental fall. The history revealed early onset of irritability, progressive visual loss, and global developmental delay, more prominent at the gross motor level and a suspected congenital cytomegalovirus infection. The pregnancy was uneventful with subsequent unremarkable delivery. The parents are Arabs′first cousins with no apparent symptoms or signs of bone disease. Three dimensional brain computed tomography (CT) showed ventriculomegaly, thick calvaria, and CS of the coronal and sagittal sutures. Patient had signs of left lower motor neuron facial palsy, and CT of petrous bones confirms the presence of osteopetrotic petrous with slim mastoid portions of the facial nerve canals both sides. Brain magnetic resonance imaging showed CM1. Skeletal survey showed sclerotic skeleton. He needed ventriculoperitoneal shunt and died at 18 months of age. Molecular testing for OSTEM1 gene revealed novel homozygous mutation that segregated from his parents. This novel OSTEM1 gene novel mutation and the combination of OP, infantile CS, and CM1 is to our knowledge never been reported.

show abstract

“…[22] Searching the literature indicated that the combination of the three abnormalities together (OP, CM1, and CS) was mentioned only once, with no mentioned genetic studies. [4]…”

Section: Discussionmentioning

confidence: 99%

“…[13] The triad of the three abnormalities has been published only once, however, with no genetic study. [4] Herein, we describe another patient with malignant OP, CS, and CM1. Molecular testing revealed novel mutation homozygous in OSTEM1 gene.…”

Section: Introductionmentioning

confidence: 99%

Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation

2013

View full text Add to dashboard Cite

show abstract

“…In the literature, there are 5 pediatric cases of autosomal recessive osteopetrosis associated with hindbrain herniation (Table 1). 3,17,18 The causative role of osteopetrosis with CM-I is unclear. Hypotheses include mass effect from the significant calvarial thickening and subsequent downward tonsillar herniation.…”

Section: Discussionmentioning

confidence: 99%

Osteopetrosis with Chiari I malformation: presentation and surgical management

Dlouhy¹,

Menezes²

2011

PED

View full text Add to dashboard Cite

Osteopetrosis is a heterogeneous group of rare, inherited disorders of the skeleton that results in neurological manifestations due to restriction of growth of cranial foramina and calvarial thickening. A 25-year-old woman with a history of autosomal dominant osteopetrosis presented to the authors' institution with headache worsened by exertion and radiating from the occipital region forward with episodes of choking/coughing when eating and a loss of gag reflex on physical examination. On MR imaging, she was found to have severe posterior fossa calvarial thickening resulting in a small posterior fossa and tonsillar ectopia of 9 mm and compression and deformation of the brainstem. She underwent posterior fossa craniectomy, foramen magnum decompression, and partial C-1 laminectomy with external durotomy. The patient did well postoperatively with resolution of symptoms. This case describes a new neurological manifestation of autosomal dominant osteopetrosis. To the authors' knowledge, this report represents the first described case of extreme posterior fossa calvarial thickening from autosomal dominant osteopetrosis with associated Chiari I malformation (CM-I) requiring posterior fossa decompression and extradural decompression. Given previously published MR imaging data that demonstrate the association of osteopetrosis and CM may be more common than in this case alone, the authors discuss the need for further investigation of the incidence of CM-I in patients with autosomal dominant osteopetrosis. Additionally, they review osteopetrosis and other diagnoses of calvarial hyperostosis presenting as CM-I.

show abstract

“…The decrease in cranial capacity related to thickening of the calvaria is thought to contribute to elevated ICP in these cases, 2,4,6,20,39 and narrowing of the cranial nerve foramina has led to deafness, facial paresis, blindness, and sequelae of brainstem compression. 2,5,9,12,20,25,32,35,63 Pediatric neurosurgical intervention in these rare cases has been described since the late 1960s, when Baird et al first described VP shunting for a 3-month-old boy with osteopetrosis and hydrocephalus. 15,37,51 Variable degrees of posterior fossa crowding and CTH in osteopetrosis are also frequently mentioned in available literature and appear to be common findings in these rare cases, with the majority of cases associated with concomitant triventricular hydrocephalus.…”

Section: Involvement Of Pediatric Neurosurgerymentioning

confidence: 99%

“…15,37,51 Variable degrees of posterior fossa crowding and CTH in osteopetrosis are also frequently mentioned in available literature and appear to be common findings in these rare cases, with the majority of cases associated with concomitant triventricular hydrocephalus. 2,5,9,12,20,25,32,35,63 Increased ICP In osteopetrosis, the decrease in cranial capacity resulting from thickening of the calvaria contributes to the elevated ICP seen in these cases. 6 While mostly outside of the United States, several reports have surfaced since that time, describing children with this disease coming to neurosurgical attention.…”

Section: Involvement Of Pediatric Neurosurgerymentioning

confidence: 99%

A unifying theory for the multifactorial origin of cerebellar tonsillar herniation and hydrocephalus in osteopetrosis

Scott¹,

Weprin²,

Swift³

2014

PED

View full text Add to dashboard Cite

Object Osteopetrosis is a rare congenital metabolic bone disease. There are very few reports in the literature associating cerebellar tonsillar herniation (CTH) and hydrocephalus requiring neurosurgical attention. The authors present cases of osteopetrosis requiring neurosurgical intervention from their practice and offer a detailed account of the literature. Methods A retrospective review was conducted at the authors' institution, and all children with osteopetrosis requiring neurosurgical attention were identified. Medical charts and radiographic studies were reviewed. Data including age at presentation, sex, symptoms at presentation, age at follow-up, the presence of any neurological comorbidities, and surgical procedures performed were recorded. Results Four patients were identified as having osteopetrosis requiring neurosurgical attention at the authors' institution between January 1, 2005, and January 1, 2014. There were 3 females and 1 male with an average age at presentation of 11.1 years; patients were observed for a mean of 4.4 years. All of the patients were identified as harboring jugular foraminal stenosis and CTH. Seventy-five percent of these patients developed hydrocephalus, and in those cases a triventricular pattern of dilation was noted. One patient developed syringomyelia. Three of the 4 patients underwent neurosurgical procedures. Cerebrospinal fluid diversion was performed in 2 patients via a ventriculoperitoneal shunt in one case and an endoscopic third ventriculostomy (ETV) in the other. The former patient required a proximal revision at 2 years for bony overgrowth at the site of the bur hole. Two patients underwent a suboccipital decompression. In patients undergoing CSF diversion, there was improvement in ventricle size. Conclusions Variable degrees of hindbrain crowding and/or CTH are mentioned throughout the literature, suggesting that this entity is nearly always present in this patient population. The progressive triventricular hydrocephalus seen in these cases results from a complex combination of both communicating and noncommunicating pathology, which may depend on the type of osteopetrosis, age at presentation, and the presence and degree of venous collateralization, and it appears that the hydrocephalus is more prevalent and more likely to be treated in infants and in the younger, school-aged population. The acquired hindbrain fullness in conjunction with the triventricular pattern of hydrocephalus has kept the authors enthusiastic regarding the use of ETV in these complicated cases.

show abstract

Lessons from a case of osteopetrosis oxycephaly and Chiari type I malformation: a case report

Cited by 16 publications

References 17 publications

Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation

Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation

Osteopetrosis with Chiari I malformation: presentation and surgical management

A unifying theory for the multifactorial origin of cerebellar tonsillar herniation and hydrocephalus in osteopetrosis

Contact Info

Product

Resources

About