Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report

2021 ◽  
pp. 1-5
Author(s):  
Bhaskar Madivala Venkateshappa ◽  
Bharath Raju ◽  
Michael S. Rallo ◽  
Fareed Jumah ◽  
Sumatha Channapatna Suresh ◽  
...  
Keyword(s):  
Bone Defect ◽  
Autosomal Recessive ◽  
Surgical Intervention ◽  
Early Recognition ◽  
Autosomal Recessive Disorder ◽  
Occipital Bone ◽  
Skull Defect ◽  
Occipital Encephalocele ◽  
Knobloch Syndrome ◽  
Occipital Bone Defect

<b><i>Background:</i></b> Knobloch syndrome (KS) is a rare autosomal recessive disorder associated with multiple ocular and cranial abnormalities. Occult occipital skull defect or encephalocele should raise suspicion of this disease. It is never reported in neurosurgical literature, possibly due to a lack of clinician familiarity, leading to underdiagnosis and inadequate management. Our patient also had seizures, which is a sporadic presentation of this syndrome. <b><i>Case Description:</i></b> Here, we report a clinico-radiologic finding of a 7-year-old boy who presented with seizures, cataracts, and an occipital bone defect along with bilateral subependymal heterotopias and polymicrogyria. <b><i>Conclusions:</i></b> This case highlights the importance of consideration of this syndrome in children with a midline occipital bone defect with or without encephalocele and seizures. Early recognition of this presentation is critical for obtaining access to appropriate genetic counseling and subsequent monitoring and prevention of complications by surgical intervention.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

2020 ◽  
Author(s):  
Siddaramappa J. Patil ◽  
Shruti Pande ◽  
Jyoti Matalia ◽  
Venkatraman Bhat ◽  
Minal Kekatpure ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Later Life ◽  
Facial Dysmorphism ◽  
Ocular Manifestations ◽  
Occipital Encephalocele ◽  
Knobloch Syndrome ◽  
Posterior Fossa Malformations ◽  
Midline Cleft

AbstractKnobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1. KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (1) ◽  
pp. 135-137
Author(s):  
Renata Hubner Frainer ◽  
Luciana Boff de Abreu ◽  
Giselle Martins Pinto ◽  
André Vicente Esteves de Carvalho ◽  
Luana Pizarro Meneghello
Keyword(s):  
Macular Degeneration ◽  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Recognition ◽  
Association Studies ◽  
Autosomal Recessive Disorder ◽  
Macular Dystrophy ◽  
Rare Autosomal Recessive Disorder ◽  
Ocular Defect ◽  
Eye Examination

Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unk nown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduc tion. There are few reports in the literature with this association. Studies show that the defective gene is on the chro mosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.

scholarly journals A Roadmap to the Brittle Bones of Cystic Fibrosis

2011 ◽  
Vol 2011 ◽  
pp. 1-10 ◽  
Author(s):  
Ashwini P. Gore ◽  
Soon Ho Kwon ◽  
Antine E. Stenbit
Keyword(s):  
Cystic Fibrosis ◽  
Lung Transplantation ◽  
Bone Disease ◽  
Bone Health ◽  
Autosomal Recessive ◽  
Multidisciplinary Approach ◽  
Early Recognition ◽  
Autosomal Recessive Disorder ◽  
Fatal Disease ◽  
Brittle Bones

Cystic fibrosis (CF) is an autosomal recessive disorder which despite advances in medical care continues to be a life-limiting and often fatal disease. With increase in life expectancy of the CF population, bone disease has emerged as a common complication. Unlike the osteoporosis seen in postmenopausal population, bone disease in CF begins at a young age and is associated with significant morbidity due to fractures, kyphosis, increased pain, and decreased lung function. The maintenance of bone health is essential for the CF population during their lives to prevent pain and fractures but also as they approach lung transplantation since severe bone disease can lead to exclusion from lung transplantation. Early recognition, prevention, and treatment are key to maintaining optimal bone health in CF patients and often require a multidisciplinary approach. This article will review the pathophysiology, current clinical practice guidelines, and potential future therapies for treating CF-related bone disease.

Suboccipital meningocele presenting as a huge retropharyngeal mass in a patient with neurofibromatosis Type 1

1999 ◽  
Vol 91 (3) ◽  
pp. 503-505 ◽  
Author(s):  
Masanori Kurimoto ◽  
Yutaka Hirashima ◽  
Nakamasa Hayashi ◽  
Shunro Endo ◽  
Masayoshi Ohi ◽  
...  
Keyword(s):  
Bone Defect ◽  
Neurofibromatosis Type 1 ◽  
Contrast Material ◽  
Neurofibromatosis Type ◽  
Occipital Bone ◽  
Cutaneous Manifestations ◽  
Content Type ◽  
The Right ◽  
Occipital Bone Defect

✓ The authors report an extremely rare case of neurofibromatosis Type 1 (NF1) with a suboccipital meningocele presenting as a huge retropharyngeal mass. A 73-year-old woman with typical cutaneous manifestations of NF1 presented with nasal obstruction and dysphagia due to a retropharyngeal mass. Magnetic resonance imaging revealed a huge mass lesion extending from the right occipital bone defect to the retropharynx through the right paravertebral region. Computerized tomography scanning after intrathecal administration of contrast material confirmed that the mass was a meningocele protruding through a right occipital bone defect. The authors attempted to ligate this meningocele, most of which was excised via a suboccipital approach, but a second transcervical operation was required. Finally, the meningocele resolved and the patient was discharged without symptoms.

Iniencephaly: neuroradiological and surgical features

1998 ◽  
Vol 89 (2) ◽  
pp. 317-320 ◽  
Author(s):  
Pamir Erdinçler ◽  
Mehmet Y. Kaynar ◽  
Bülent Canbaz ◽  
Naci Koçer ◽  
Cengiz Kuday ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Cervical Spine ◽  
Bone Defect ◽  
Cervical Vertebrae ◽  
Psychomotor Retardation ◽  
Occipital Bone ◽  
Content Type ◽  
Rare Congenital Anomaly ◽  
Occipital Bone Defect ◽  
Fine Print

Iniencephaly is a rare congenital anomaly characterized by spina bifida of the cervical vertebrae, fixed retroflexion of the head on the cervical spine, and occipital bone defect. There are only five reports of surviving patients with iniencephaly. The authors report the case of a newborn who presented with iniencephaly and an encephalocele that were surgically treated in our service. Neurological examination of the patient yielded normal results except for a moderate psychomotor retardation. The neuroradiological and surgical findings of the case suggested that the trigger of the anomaly was the occipital bone defect and rachischisis of the posterior vertebral arches.

scholarly journals Meckel-Gruber syndrome: a rare and lethal foetal anomaly

2020 ◽  
Vol 9 (7) ◽  
pp. 3063
Author(s):  
Parikshit Jondhale ◽  
Mohit Marda ◽  
Vidyadhar B. Bangal ◽  
Nikita Bagdi
Keyword(s):  
Congenital Malformations ◽  
Autosomal Recessive ◽  
Ultrasound Examination ◽  
Autosomal Recessive Disorder ◽  
Ambiguous Genitalia ◽  
Antenatal Ultrasound ◽  
Cystic Kidneys ◽  
Live Births ◽  
Postaxial Polydactyly ◽  
Occipital Encephalocele

Meckel-Gruber syndrome (MGS) is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other congenital malformations. The incidence of Meckel-Gruber syndrome ranges between 1 in 13,000 to 4,00,000 live births. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features. A case is presented that describes a baby with ambiguous genitalia, who presented with the triad of Meckel-Gruber syndrome. The baby died shortly after birth.

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