Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association

Background. We describe a case of an infant with Arnold-Chiari Malformation Type II (ACM-II) who was born with lumbosacral myelomeningocele, hydrocephalus, and primary congenital glaucoma (PCG) together with dysmorphic features (scaphocephaly, frontal bossing, hypotelorism, entropion, and flat nasal bridge), which according to our knowledge, is a combination that has yet to be described in literature. Primary diagnosis. A 2-year-old female who is known to have ACM-II was referred due to abnormal eye examination done in a peripheral hospital that suggested infantile glaucoma in both eyes. Findings. During her last physical exam (postop), she was vitally stable, conscious with good feeding. Ophthalmic assessment revealed buphthalmia, superior paracentral scar, deep anterior chambers (AC), and round pupils with positive red reflex, clear lens, and an IOP of 16, 14 mm Hg, respectively. Neurological exam showed paraparesis and moving upper extremities and has axial hypotonia. Genetic testing showed CYP1B1 gene mutation. Conclusion. The aim of reporting this case is to share the findings in this infant as it may be a new association. The main learning message here is that ACM-II patients may present with certain ocular symptoms, including glaucoma-related ones that may mimic neurological disorders. This report brings information that could alert general practitioners, neurologists, and neurosurgeons. A deeper understanding of this rare disorder may aid the diagnosis of cases with similar characteristic physical findings by referring them to an ophthalmology clinic for further evaluation. Case presentation. A 2-year-old female who is known to have Arnold Chiari Malformation Type II (ACM- II) was referred due to abnormal eye examination done in a peripheral hospital that suggested infantile glaucoma in both eyes. MRI at 3 months of age showed lumbosacral myelomeningocele and hydrocephalus. Genetic testing confirmed a CYP1B1 mutation. These combinations of symptoms were never described in the literature before.

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Intravenous Sedation in Arnold-Chiari Malformation With Respiratory Failure

Anesthesia Progress ◽

10.2344/anpr-66-01-06 ◽

2019 ◽

Vol 66 (1) ◽

pp. 37-41 ◽

Cited By ~ 2

Author(s):

Yoshiki Shionoya ◽

Eishi Nakamura ◽

Takahiro Goi ◽

Kiminari Nakamura ◽

Katsuhisa Sunada

Keyword(s):

Respiratory Failure ◽

Respiratory Depression ◽

Chiari Malformation ◽

Dental Treatment ◽

Anesthetic Management ◽

Cranial Nerves ◽

Intravenous Sedation ◽

Type Ii ◽

Neck Extension ◽

Arnold Chiari Malformation

Type II Arnold-Chiari malformation (ACM) is an abnormality in which the cerebellum, pons, and medulla oblongata are displaced downward into the spinal cord. Type II ACM is often complicated by respiratory depression, sleep-disordered breathing, and deglutition disorder as a result of medullary dysfunction and impairment of the lower cranial nerves. Bending and stretching of the neck is restricted, and anesthetic management is problematic in patients with the disorder. We performed dental treatment twice under intravenous sedation in a patient with intellectual disability with type II ACM complicated by hypercapnic respiratory failure. Propofol was used for the first sedation procedure. Repeated bouts of respiratory depression occurred on that occasion, so the airway was managed manually by lifting the jaw. However, aspiration pneumonitis occurred postoperatively. A combination of dexmedetomidine and midazolam was used for sedation on the second occasion, and the intervention was completed uneventfully without any respiratory depression. Our experience with this patient highlights the need for selection of an agent for intravenous sedation that does not require neck extension and has minimal effect on respiration in patients with type II ACM, who are at high risk of respiratory depression and pulmonary aspiration.

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Mesencephalic spur (beaking deformity of the tectum) in Arnold-Chiari malformation

Journal of Neurosurgery ◽

10.3171/jns.1976.45.3.0315 ◽

1976 ◽

Vol 45 (3) ◽

pp. 315-320 ◽

Cited By ~ 11

Author(s):

Adelola Adeloye

Keyword(s):

Chiari Malformation ◽

Type Ii ◽

Content Type ◽

Arnold Chiari Malformation ◽

Degrees Of Severity ◽

Fine Print

✓ The beaking deformity of the tectum, referred to in this paper as the mesencephalic spur, is regularly present in the Type II variety of the Arnold-Chiari malformation in varying degrees of severity. When the mesencephalic spur is related to associated myelomeningocele, it was found that the more extensive the myelomeningocele, and the older the affected children, the more prominent was the mesencephalic spur.

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Arnold-Chiari malformation type II

10.32388/ro4vjx ◽

2020 ◽

Author(s):

Keyword(s):

Chiari Malformation ◽

Type Ii ◽

Arnold Chiari Malformation

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Case report of a newborn with Arnold-Chiari malformation type Ii associated with hydrocephalus and myelomeningocele

Journal of the Neurological Sciences ◽

10.1016/j.jns.2015.08.704 ◽

2015 ◽

Vol 357 ◽

pp. e204

Author(s):

H.H.S. Matozinho ◽

J.M. Rosa ◽

J.A. Ferreira ◽

S. Borges ◽

V.F.P. Costa ◽

...

Keyword(s):

Case Report ◽

Chiari Malformation ◽

Type Ii ◽

Arnold Chiari Malformation

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Dilated Fourth Ventricle in Arnold-Chiari Malformation Type II: Isolated Fourth Ventricle as Sequelae of Shunt? —Case Report—

Neurologia medico-chirurgica ◽

10.2176/nmc.33.575 ◽

1993 ◽

Vol 33 (8) ◽

pp. 575-578 ◽

Cited By ~ 3

Author(s):

Shigetaka ANEGAWA ◽

Takashi HAYASHI ◽

Ryuichiro TORIGOE ◽

Tetsuzo OGASAWARA

Keyword(s):

Case Report ◽

Chiari Malformation ◽

Fourth Ventricle ◽

Type Ii ◽

Arnold Chiari Malformation ◽

Isolated Fourth Ventricle

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Diastematomyelia differences in management of diastemetomyelia with associated abnormalities versus isolated diastemetomyelia: a case series

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20204834 ◽

2020 ◽

Vol 9 (11) ◽

pp. 4688

Author(s):

Salini Raani J. P. ◽

Ashwin Rao ◽

Madhan Balu ◽

Rashmi Rao

Keyword(s):

Spinal Cord ◽

Chiari Malformation ◽

Spinal Dysraphism ◽

Case Series ◽

Split Cord Malformation ◽

Type Ii ◽

Associated Anomalies ◽

Intact Skin ◽

Arnold Chiari Malformation ◽

Gestation Age

Diastematomyelia (DM), also known as split cord malformation (SCM) is a type of spinal dysraphism. It is a very rare congenital spinal anomaly characterized by clefting of the spinal cord due to a partial or complete bony or fibrous septum within the spinal canal with splaying of the posterior spinal elements resulting in localized division of the spinal cord into two parts on either side of the septum which typically reunite below the cleft. The pathology was first described by Cruvelhier in 1853. About 1-3 per 1000 live birth, is the estimated incidence of spinal dysraphism and neural tube defects (NTD) occurs more commonly in females (55-70%). Prenatal diagnosis of DM is possible by ultrasonography (USG). The clinical significance of DM is that it may manifest as an isolated abnormality or in association with other spinal abnormalities such as spina bifida, Arnold-Chiari malformation, hemivertebra, butterfly vertebra, kyphoscoliosis or part of Jarcho-Levin syndrome. The management of pregnancy with a foetus diagnosed with DM antenatally, differs based on whether the foetus has an isolated DM with intact skin or DM with more serious associated anomalies. We present two cases of Foetal DM both diagnosed by antenatal USG, Case 1 was diagnosed at 16 weeks gestation age (GA) with DM associated with Type II Arnold-Chiari malformation, hydrocephalus and case 2 was diagnosed with isolated DM at 19 weeks 2 days GA.

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ARNOLD-CHIARI MALFORMATION: LITERATURE REVIEW AND CLINICAL CASE IN SIBLINGS

Neonatology surgery and perinatal medicine ◽

10.24061/2413-4260.xi.1.39.2021.8 ◽

2021 ◽

Vol 11 (1(39)) ◽

pp. 58-64

Author(s):

Anastasiya Babintseva ◽

Yu.Yu. Khodzinska ◽

І.V. Lastivka ◽

О.І. Yurkiv ◽

A.I. Roshka ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Chiari Malformation ◽

Clinical Case ◽

Type Ii ◽

Hernia Sac ◽

Arnold Chiari Malformation ◽

System Type ◽

The Central Nervous System ◽

The Brain

Arnold-Chiari malformation is a defectof the cervical-medullar transition characterized bydisplacement of the cerebellar tonsils and in a numberof cases when the stem and IV ventricle extend into theforamen magnum. There are four main types of pathology,and type II is found most often.The article presents a clinical case of type II ArnoldChiari malformation in siblings. The newborn girl born afterVII pregnancy and VII physiological delivery in the termof 39-40 weeks was under observation. US examination inthe terms of 20-21 and 34 weeks of gestation diagnoseda congenital developmental defect of the central nervoussystem characterized by a “lemon”-like shape of the brain,displacement of the brain structures in the portion of theforamen magnum, ventriculomegaly, a defect of the lumbarsacral portion with formation of hernia sac, and dropsy ofamnion. The family couple refused from interruption ofpregnancy and medical-genetic examination.The basic diagnosis of the child was congenitaldevelopmental defect of the central nervous system(type II Arnold-Chiari malformation: rachischisis andhydrocephalus) including complications such as inferiortorpid paraplegia and dysfunction of the pelvic organs.Investigation of hereditary anamnesis foundcompromised heredity on the mother’s side (her mother’ssibling has Down’s syndrome), and IV child in the familyis disabled from birth due to a congenital developmentaldefect of the central nervous system – type II Arnold-Chiarimalformation.The family couple refused from a comprehensivemedical-genetic consultation during the previous andcurrent pregnancies, and magnetic-resonance imaging ofthe child.

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