Chiari Malformation Caused by Craniometaphyseal Dysplasia: Case Report and Review of Literature

Cai, Christopher Y.; Zhang, Q.; Shen, Changhong; Sun, Guozhe; Wang, C.

doi:10.1055/s-2008-1038536

Cited by 10 publications

(7 citation statements)

References 13 publications

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“…Craniometaphyseal dysplasia (CMD) is characterized by cranial hyperostosis and defective modeling of tubular bones, features shared with ODDD, but without syndactyly [14]. The dominant form of CMD is caused by mutations of the ANKH gene, encoding a pyrophosphate transporter [15].…”

Section: Connexins In Human Skeletal Diseasementioning

confidence: 99%

Connexins in the skeleton

Stains

Civitelli

2016

Seminars in Cell & Developmental Biology

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Shaping of the skeleton (modeling) and its maintenance throughout life (remodeling) require coordinated activity among bone forming (osteoblasts) and resorbing cells (osteoclasts) and osteocytes (bone embedded cells). The gap junction protein connexin43 (Cx43) has emerged as a key modulator of skeletal growth and homeostasis. The skeletal developmental abnormalities present in oculodentodigital and craniometaphyseal dysplasias, both linked to Cx43 gene (GJA1) mutations, demonstrate that the skeleton is a major site of Cx43 action. Via direct action on osteolineage cells, including altering production of pro-osteoclastogenic factors, Cx43 contributes to peak bone mass acquisition, cortical modeling of long bones, and maintenance of bone quality. Cx43 also contributes in diverse ways to bone responsiveness to hormonal and mechanical signals. Skeletal biology research has revealed the complexity of Cx43 function; in addition to forming gap junctions and “hemichannels”, Cx43 provides a scaffold for signaling molecules. Hence, Cx43 actively participates in generation and modulation of cellular signals driving skeletal development and homeostasis. Pharmacological interference with Cx43 may in the future help remedy deterioration of bone quality occurring with aging, disuse and hormonal imbalances.

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Section: Connexins In Human Skeletal Diseasementioning

confidence: 99%

Connexins in the skeleton

Stains

Civitelli

2016

Seminars in Cell & Developmental Biology

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“…CMD is a rare genetic skeletal disorder with abnormal modeling of the skull and tubular bones, and patients show frontonasal bossing, hypertelorism, choanal narrowing, and a prognathic mandible [1,2]. The clavicles can also show osteosclerosis [3].…”

Section: Discussionmentioning

confidence: 99%

“…In CMD patients, bone can compress various cranial nerves, which can result in blindness, facial nerve palsy, and deafness, and quadriparesis or death may result from foramen magnum narrowing and compression of the medulla in the severe forms of the disease [2].…”

Section: Discussionmentioning

confidence: 99%

Cardiopulmonary Arrest Caused by Craniometaphyseal Dysplasia

Chida

Yanagawa²,

Matsumoto

et al. 2011

Indian J Pediatr

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Craniometaphyseal dysplasia is a rare congenital disorder that can cause craniofacial skeleton and tubular bone anomalies. A 7-month-old girl, with congenital facial palsy, mouth breathing, and nasal obstruction, was brought to the hospital because she suffered sudden cardiopulmonary arrest. Computed tomography showed bony narrowing of the choanae. The diagnosis was cardiopulmonary arrest triggered by asphyxia caused by severe choanal stenosis. She showed hypoxic encephalopathy and underwent a tracheotomy and an operation to enlarge choanae. When a neonate or young infant shows signs of nasal obstruction, physicians should aggressively search for and consider the possibility of choanal atresia or severe stenosis.

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“…The patient also presented with Chiari malformation Type I. 2,7 As a result of all these events, the origin of hypertension became multifactorial and the treatment became more complex: an increase in skull thickness and dolichocephalic morphology caused cranioencephalic disproportion, diminution in the skull foramina diameter (including the jugular foramen), and resistance to venous return. As a result, superior sagittal sinus pressure increased, as later confirmed on cerebral MR angiography.…”

Section: Discussionmentioning

confidence: 99%

“…Signs of intracranial hypertension may be the result of jugular foramen stenosis together with hyperostosis of the cranial vault and compression of the superior sagittal sinus. [2][3][4][5][6] We present 2 rare cases of intracranial hypertension of multifactorial origin treated using different therapies.…”

mentioning

confidence: 99%

Intracranial hypertension in 2 cases of craniometaphyseal dysplasia: differing surgical options

Rivero-Garvía¹,

Márquez-Rivas²,

García-Iglesias³

et al. 2011

FOC

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Craniometaphyseal dysplasia (CMD) is a very rare bone disorder characterized by abnormally developed metaphyses in long bones and sclerosis of the craniofacial bones. In this paper, the authors report 2 cases of children diagnosed with CMD and chronic intracranial hypertension with deletion in exon 9 of the human ANK gene (ANKH). After intracranial monitoring, a different treatment was chosen for each patient. One of the patients was treated using CSF shunting because ventriculomegaly in the absence of a Chiari malformation was also observed on cerebral MR imaging. The other patient underwent cranial expansion and decompressive craniotomy of the posterior fossa, because ventriculomegaly was excluded after cerebral MR imaging and cervical MR imaging showed a Chiari malformation Type I. The origin of intracranial hypertension in CMD is multifactorial. Previous intracranial pressure monitoring and a thorough understanding of neuroimaging studies are essential to achieve an accurate diagnosis and effective treatment.

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Chiari Malformation Caused by Craniometaphyseal Dysplasia: Case Report and Review of Literature

Cited by 10 publications

References 13 publications

Connexins in the skeleton

Connexins in the skeleton

Cardiopulmonary Arrest Caused by Craniometaphyseal Dysplasia

Intracranial hypertension in 2 cases of craniometaphyseal dysplasia: differing surgical options

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