Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene

Aymé–Gripp syndrome is a rare autosomal dominant syndrome caused by mutations in the MAF gene and is characterized by a pronounced phenotypic polymorphism. The core of clinical signs consists of congenital cataracts, sensorineural hearing loss, specific dysmorphic facial features and intellectual disabilities. With varying frequency, patients have: radioulnar synostosis, Arnold–Chiari malformation, aseptic pericarditis, dental anomaly and osteoarthritis. The article presents the clinical and genetic characteristics of the first Russian patient with Aymé–Gripp syndrome caused by a newly identified mutation s.173C>A (p.Thr58Asn NM_005360.4) in a heterozygous state in the MAF gene. The influence of the lo calization and type of amino acid substitutions in the protein product of the gene on the severity and specificity of the clinical manifestations of the syndrome is discussed.

Posterior Cranial Fossa Meningioma Causing Tonsillar Herniation and Giant Cervicothoracic Syringomyelia, Case Report and Review of Literature

Background Syringomyelia is a fluid-filled cyst within the spinal cord and usually associated with Arnold-Chiari malformation. Posterior cranial fossa tumours are a rare cause of tonsillar herniation and secondary syringomyelia. Case Presentation: We report a rare case of a 56-year-old female with posterior cranial meningioma and secondary syringomyelia, admitted with headache, nausea, vomiting, and ataxic gait. MRI demonstrated a large posterior fossa lesion causing early ventriculomegaly and syrinx within the upper spinal cord extending from the hindbrain inferiorly to the level of T8. She underwent a posterior fossa craniectomy with left C1 hemilaminectomy and complete excision of the tumour. In 6 months following her procedure, MRI scan showed a significant reduction in the calibre of the syringomyelia throughout its length and there was a significant improvement in symptoms. Literature review: A PubMed literature search was carried out with keywords: “syringomyelia”, “posterior fossa” and “tumour”. 120 articles were reviewed. The inclusion criteria for this study was posterior fossa meningioma causing syrinx formation. A total of 9 isolated similar cases were identified. Discussion Tonsillar herniation and syringomyelia secondary to posterior cranial fossa meningioma are rare. The alteration in the dynamic flow of CSF is likely to be the cause for the formation and enlargement of the syrinx. Conclusion Although the pathophysiology of syrinx formation is still poorly understood, the alteration of CSF dynamic has been implicated, but a common unifying cause appears to be increased transcranial difference in intracranial pressure across the foramen magnum causing tonsillar herniation, irrespective of location in the posterior fossa. Posterior fossa craniotomy and excision of the lesion is the mainstay treatment.

Syringomyelia Managed with Classical Homeopathy, A Case Report

Background: Syringomyelia (SM) with Chiari malformation is a rare disease with an unpredictable course. Surgery and other interventions help reduce the severity of symptoms, but over 50% patients require re-operation. Auto-resolution is rare in this type of SM, and most cases progress to complications, which may amount to a great burden. Case presentation: We present a case of SM with Arnold-Chiari malformation type 1 in a 54-year-old Russian woman who was treated with individualized classical homeopathy for over eight years with remarkable improvement in the clinical signs and symptoms of the condition and comorbidities. On MRI, the syrinx completely resolved, which further confirmed the benefit of this therapy. Conclusion: This case of SM with Arnold-Chiari malformation type 1 seemed to benefit from individualized classical homeopathy. Scientific investigation into an individualized classical homeopathic approach towards SM is necessary to establish its relevance in this condition.

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.

Arnold-Chiari Malformation: Core Concepts

Arnold-Chiari malformation (ACM), a defect that involves downward displacement of the hindbrain and herniation of the cerebellar vermis, tonsils, pons, medulla, and fourth ventricle through the foramen magnum, is the most complex of the 4 types of Chiari malformations. Unique to the other types of Chiari malformations, approximately 95 percent of infants with ACM also present with an associated myelomeningocele (MMC), the most severe form of spina bifida. Among affected infants, those with symptomatic comorbidities incur a significantly higher morbidity and mortality risk. Prompt identification and diagnosis of ACM, as well as evidence-based postnatal and postsurgical nursing and medical care, is critical. Early surgical intervention can repair an existing MMC and restore proper cerebrospinal fluid circulation, which can dramatically improve patient outcomes and quality of life, and reduce disease and health care burden.

Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold-Chiari Malformation and a 3q Duplication

We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a spina bifida, other imaging techniques together with genetic tests and measurement of alpha-fetoprotein in the amniotic fluid should be performed.