- Neonatal Intensive Care Unit, Ibn Sina Hospital, Kuwait City, Kuwait
- Department of Neurosurgery, Ibn Sina Hospital, Kuwait City, Kuwait
- Department of Diagnostic Radiology, Jahra Hospital, Kuwait City, Kuwait
Correspondence Address:
Waleed A. Azab
Department of Diagnostic Radiology, Jahra Hospital, Kuwait City, Kuwait
DOI:10.4103/2152-7806.139390
Copyright: © 2014 Shohoud SA. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.How to cite this article: Shohoud SA, Azab WA, Alsheikh TM, Hegazy RM. Blake's pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature. Surg Neurol Int 21-Aug-2014;5:
How to cite this URL: Shohoud SA, Azab WA, Alsheikh TM, Hegazy RM. Blake's pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature. Surg Neurol Int 21-Aug-2014;5:. Available from: http://sni.wpengine.com/surgicalint_articles/blakes-pouch-cyst-and-werdnig-hoffmann-disease-report-of-a-new-association-and-review-of-the-literature/
Abstract
Background:We report a case of a neonate with proximal spinal muscular atrophy (SMA) type 1 (also known as Werdnig-Hoffmann disease or severe infantile acute SMA) associated with a Blake's pouch cyst; a malformation that is currently classified within the spectrum of Dandy-Walker complex. The association of the two conditions has not been previously reported in the English literature. A comprehensive review of the pertinent literature is presented.
Case Description:A male neonate was noted to have paucity of movement of the four limbs with difficulty of breathing and poor feeding soon after birth. Respiratory distress with tachypnea, necessitated endotracheal intubation and mechanical ventilation. Pregnancy was uneventful except for decreased fetal movements reported by the mother during the third trimester. Neurological examination revealed generalized hypotonia with decreased muscle power of all limbs, nonelicitable deep tendon jerks, and occasional tongue fasciculations. Molecular genetic evaluation revealed a homozygous deletion of both exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, and exon 5 of the neuronal apoptosis inhibitory protein (NAIP) gene on the long arm of chromosome 5 consistent with Werdnig-Hoffmann disease (SMA type 1). At the age of 5 months, a full anterior fontanelle and abnormal increase of the occipito-frontal circumference were noted. Computed tomographic (CT) scan and magnetic resonance imaging (MRI) of the brain revealed a tetraventricular hydrocephalus and features of Blake's pouch cyst of the fourth ventricle.
Conclusions:This case represents a previously unreported association of Blake's pouch cyst and SMA type 1.
Keywords: Blake's Pouch Cyst, Dandy–Walker complex, spinal muscular atrophy, Werdnig-Hoffmann disease
INTRODUCTION
The spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of disorders characterized by degeneration and loss of anterior horn cells of the spinal cord leading to muscle weakness and atrophy.[
CASE REPORT
A male neonate who is the first product of a nonconsanguineous marriage born at term with a body weight of 3.6 kg to a healthy young mother. Pregnancy was uneventful except for decreased fetal movements reported by the mother during the third trimester. Family history was negative for both parents.
Soon after birth, he was noticed to have paucity of movement of the four limbs with difficulty of breathing and poor feeding. He then developed respiratory distress with tachypnea, increased work of breathing, and oxygen desaturation that necessitated endotracheal intubation and mechanical ventilation. Clinically, his body weight, height and occipito-frontal circumference were all above 25th percentile; neurological examination revealed generalized hypotonia with decreased muscle power of all limbs, nonelicitable deep tendon jerks and occasional tongue fasciculations. No other clinical abnormalities were detected. Extensive metabolic workup and a TORCH (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes simplex, HIV) screen revealed no abnormalities. Cranial and abdominal ultrasound examinations as well as cardiac echocardiogram were normal. Molecular genetic evaluation revealed a homozygous deletion of both exons 7 and 8 of the SMN1 gene, and exon 5 of the neuronal apoptosis inhibitory protein (NAIP) gene on the long arm of chromosome 5 consistent with Werdnig-Hoffmann disease (SMA type 1).
At the age of 5 months, a full anterior fontanelle and abnormal increase of the occipito-frontal circumference were noted. Computed tomographic (CT) scan and magnetic resonance imaging (MRI) of the brain revealed a tetraventricular hydrocephalus and features of BPC of the fourth ventricle. Endoscopic third ventriculostomy or ventriculoperitoneal shunt insertion were both refused by the parents after detailed counseling. A follow up MRI done 3 months later showed progressive hydrocephalus [
Figure 1
(a) Sagittal T2-weighted MR image demonstrating severe hydrocephalus with bulging third ventricular floor, open aqueduct and dilated fourth ventricle. Cerebellar vermis is compressed, relatively well-developed and is nonrotated. A thin line between dilated fourth ventricle and cisterna magna (Black arrow) indicates a Blake's pouch cyst. A high torcular Herophili with upward displacement of the tentorium is seen (b) Axial T2-weighted MR image with cystic dilatation of the fourth ventricle and compressed medial cerebellar hemispheres (Black arrows) (c) Coronal and (d) Sagittal T2-weighted MR images further demonstrate features of severe hydrocephalus
The parents refused any surgical maneuver for CSF diversion including ventriculoperitoneal shunting or endoscopic third ventriculostomy. Now, for 11 months since admission to neonatal intensive care unit (NICU), many trials of extubation failed and he had to be re-intubated every time, due to increased work of breathing and desaturation. Over his NICU course, he developed frequent respiratory tract infections that were timely treated. Currently, the patient is kept on mechanical ventilation and is receiving only supportive care.
DISCUSSION
We report a case of proximal SMA type 1 (Werdnig–Hoffmann disease or severe infantile acute SMA) associated with a Blake's pouch cyst; a malformation that is currently classified within the spectrum of DWC. An exhaustive search of the Medline failed to retrieve any previously reported association of the two conditions in the English literature. The patient had a homozygous deletion of both exons 7 and 8 of the SMN1 gene, and exon 5 of the NAIP gene on the long arm of chromosome 5. In addition to the posterior fossa anomaly and hydrocephalus in our patient, both clinical and genetic findings are consistent with the diagnosis of proximal SMA type 1. In a seemingly similar case, Panas et al. reported a combination of distal SMA with DWC and anterior polar cataracts in two brothers aged 23 and 25 years.[
The spinal muscular atrophies
The SMAs are a genetically and clinically heterogeneous group of disorders characterized by degeneration and loss of anterior horn cells of the spinal cord leading to muscle weakness and atrophy.[
Depending on the age of onset, the maximum muscular activity achieved, and survivorship, proximal SMA types are classified as type I (Phenotype MIM number 253300), severe infantile acute SMA, or Werdnig–Hoffman disease; type II (Phenotype MIM number 253550), or infantile chronic SMA; type III (Phenotype MIM number 253400), juvenile SMA, or Wohlfart–Kugelberg–Welander disease; and type IV (Phenotype MIM number 271150), or adult-onset SMA.[
Non-SMN1 SMAs include nonproximal SMA, bulbar palsy, spinobulbar muscular atrophy (SBMA), and infantile SMA variants also known as “SMA plus”.[
Dandy-Walker complex and Blake's pouch cyst
The posterior fossa anomaly and the associated hydrocephalus in the patient of this report represent a BPC that is currently classified within the spectrum of DWC. DWC is a continuum of congenital anomalies comprising DWM, DWV, Blake's pouch cyst, and MCM.[
The original description of DWM dates back to the year 1914 when Dandy and Blackfan described a huge cystic dilatation of the fourth ventricle with anterior displacement of the cerebellar vermis that was attributed to primary atresia of the foramina of the fourth ventricle.[
Tortori-Donati et al. added persistent BPC as an independent entity within the DWC.[
Typical radiological features of BPC are (i) tetraventricular hydrocephalus, (ii) infra- or retrocerebellar localization of the cyst, (iii) a relatively well-developed, nonrotated cerebellar vermis (as opposed to a DW), (iv) a cystic dilation of the fourth ventricle without cisternal communication, and (v) some degree of compression on the medial cerebellar hemispheres. Ideally, one may see the fourth ventricular choroid plexus continuing in the roof of the cyst on sagittal MR images.[
DWC has been associated with a long list of chromosomal and phenotypic abnormalities of both neural and mesenchymal elements [
Spinal muscular atrophy with pontocerebellar hypoplasia
SMA-PCH (PCH-1) is an important differential diagnosis of the case reported herein, and can be excluded based on both genetic and radiological grounds; SMA-PCH is a non-SMN1 condition on contrary to our patient with homozygous deletion of both exons 7 and 8 of the SMN1 gene on chromosome 5. MRI of our patient reveals a normal appearance of the brainstem and ventral pons in addition to other findings consistent with BPC [
It is of relevance to this discussion to review the molecular genetic abnormality underlying PCH-1; namely the Vaccinia-related kinase 1 (VRK1) gene abnormality owing to its role in the pathogenesis of SMA and its probable contribution to the evolution of some cerebellar and posterior fossa congenital anomalies [
The existence of an autoregulatory loop between VRK1 and p53 may be of relevance to both development and maintenance of the nervous system. p53 regulates cell division and death during nervous system development and in response to neuronal insult or injury during life. Recessive mutations in Ataxia telangiectasia mutated (ATM), which phosphorylate p53 in response to DNA damage cause ataxia telangiectasia, in which loss of cerebellar neurons and ataxia are prominent features.[
As it is well known that mutations in multiple genes can cause various central nervous system malformations,[
CONCLUSION
This case represents a previously unreported association of BPC and SMA type 1 that further expands the current literature, and potentially directs future investigation of probable molecular genetic links between these conditions.
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