Hydrocephalus in mucopolysaccharidosis Type VI successfully treated with endoscopic third ventriculostomy

Mucopolysaccharidosis (MPS) Type VI, or Maroteaux-Lamy syndrome, is characterized by a deficiency of the enzyme arylsulfatase B (ASB). In patients with this disorder, craniocervical compression, carpal tunnel syndrome, and communicating hydrocephalus are common. Traditionally, hydrocephalus occurring in patients with MPS VI has been treated with shunt placements. Considering obstruction of the outlets from the fourth ventricle at the craniocervical transition, the authors decided to treat a female patient with MPS VI via endoscopic third ventriculostomy. She was 12 years old and had refractory headaches. This seems to be the first reported instance of the neuroendoscopic treatment of hydrocephalus in a patient with MPS VI. The pathophysiology is briefly discussed.

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Early Diagnosis and Results of Enzyme Replacement Therapy in the Patient with Mucopolysaccharidosis Type VI: Clinical Case

Вопросы современной педиатрии ◽

10.15690/vsp.v20i6s.2369 ◽

2021 ◽

Author(s):

Dmitry V. Ivanov ◽

Anna I. Ostrun ◽

Vladimir M. Kenis ◽

Tatiana V. Markova ◽

Ekaterina Yu. Zakharova

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Clinical Case ◽

Mucopolysaccharidosis Type ◽

Lysosomal Storage ◽

Enzyme Replacement ◽

Mucopolysaccharidosis Type Vi ◽

Mps Vi ◽

Arylsulfatase B ◽

Arsb Gene

Background. Mucopolysaccharidosis type VI (MPS VI, Maroteaux–Lamy syndrome) is rare autosomal-recessive multisystem disease, one of the group of lysosomal storage diseases. The MPS VI pathogenesis is determined by arylsulfatase B enzyme deficiency caused by mutations in the ARSB gene. There are only few published clinical examples of this disease that covers the results of early enzyme replacement therapy (ERT) onset.Clinical case description. The child was suspected to have lysosomal storage disease at the age of 1.5 months, it was based on microscopic analysis of blood smears: Alder abnormality was revealed (granulations and red-violet inclusions in neutrophils, monocytes, lymphocytes cytoplasm). The diagnosis was confirmed at the age of 3 months: increased glycosaminoglycans (GAGs) concentration in the urine, arylsulfatase B activity decrease in dried blood spots, and pathogenic variant c.943C>T (p. R315X) in the ARSB gene in homozygous state were revealed. ERT with galsulfase was started at the age of 7 months. There was decrease in excretion of GAGs in urine to normal level after 9 and 15 months of therapy. Normal growth and body proportions for the patient’s age were determined 3 years after continuous ERT. However, there was progression of multiple dysostosis and joint stiffness, as well as eyes lesion.Conclusion. Early ERT onset cannot completely stop MPS VI progression but it allows to reduce the severity of several symptoms and improves patient’s quality of life.

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Delayed Fourth Ventricle Outlet Obstruction after Fourth Ventricle Tumor Removal Successfully Treated with Endoscopic Third Ventriculostomy in a Pediatric Patient

10.31487/j.gscr.2020.01.06 ◽

2020 ◽

pp. 1-4

Author(s):

Pau Capilla-Guasch ◽

Félix Pastor-Escartín ◽

Pau Capilla-Guasch ◽

Vicent Quilis-Quesada ◽

Esteban Vega Torres ◽

...

Keyword(s):

Fourth Ventricle ◽

Endoscopic Third Ventriculostomy ◽

Clinical Status ◽

Outlet Obstruction ◽

Third Ventriculostomy ◽

Communicating Hydrocephalus ◽

Safe Procedure ◽

Who Grade ◽

Magnetic Resonance Imaging Mri ◽

Mri Study

Introduction: Fourth ventricle outlet obstruction (FVOO) at the level of Magendie’s and Luschka’s foramina is a rare cause of non-communicating hydrocephalus. Case Report: We present a case of a 15-year-old woman successfully operated on a fourth ventricle WHO grade 1 pilocytic astrocytoma developing a delayed FVOO five months after surgery, when the patient experienced progressive headache, nausea and gate disturbances. Magnetic resonance imaging (MRI) study showed a tetra-ventricular hydrocephalus, with enlargement and bulging of both lateral recesses and Luschka’s foramina. An endoscopic third ventriculostomy (ETV) was successfully performed. Postoperative computed tomography (CT) and MRI studies showed a significant improvement of the hydrocephalus. Conclusion: FVOO is a rare cause of hydrocephalus. Posterior fossa and fourth ventricle microsurgical procedures can produce a delayed FVOO leading to an unexpected deterioration of the clinical status of the patient. The ETV is an effective and safe procedure to treat this unusual condition.

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Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report

BMC Ophthalmology ◽

10.1186/s12886-021-01979-3 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Ming-Fang He ◽

Ji Yang ◽

Meng-Jie Dong ◽

Yin-Ting Wang ◽

Hai Liu

Keyword(s):

Vision Loss ◽

Genetic Diagnosis ◽

Corneal Opacity ◽

Compound Heterozygous ◽

Mucopolysaccharidosis Type ◽

Missense Mutations ◽

Mucopolysaccharidosis Type Vi ◽

Mps Vi ◽

Arylsulfatase B ◽

Chinese Male

Abstract Background Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive inherited disease caused by mutations in the arylsulfatase B (ARSB) gene. MPS VI is a multisystemic disease resulting from a deficiency in arylsulfatase B causing an accumulation of glycosaminoglycans in the tissues and organs of the body. In this report, we present the case of a 16-year-old Chinese male who presented with vision loss caused by corneal opacity. MPS VI was confirmed by genetic diagnosis. Case presentation A 16-year-old Chinese male presented with a one-year history of binocular vision loss. The best-corrected visual acuity was 0.25 in the right eye and 0.5 in the left eye. Although slit-lamp examination revealed corneal opacification in both eyes, the ocular examinations of his parents were normal. At the same time, the patient presented with kyphotic deformity, short stature, joint and skeletal malformation, thick lips, long fingers, and coarse facial features. Genetic assessments revealed that ARSB was the causative gene. Compound heterozygous missense mutations were found in the ARSB gene, namely c.1325G > A (p. Thr442Met) (M1) and c.1197G > C (p. Phe399Leu) (M2). Genetic diagnosis confirmed that the patient had MPS VI. Conclusions This paper reports a case of MPS VI confirmed by genetic diagnosis. MPS VI is a multisystem metabolic disease, with corneal opacity as a concomitant ocular symptom. As it is difficult for ophthalmologists to definitively diagnose MPS VI, genetic testing is useful for disease confirmation.

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Thrombocytopenia associated with galsulfase treatment

Human & Experimental Toxicology ◽

10.1177/0960327110379023 ◽

2010 ◽

Vol 30 (7) ◽

pp. 768-771 ◽

Cited By ~ 4

Author(s):

Murat Doğan ◽

Yasar Cesur ◽

Erdal Peker ◽

Ahmet F Oner ◽

Sekibe Zehra Dogan

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Lysosomal Storage Disorder ◽

Mucopolysaccharidosis Type ◽

Lysosomal Storage ◽

Cultured Fibroblasts ◽

Enzyme Replacement ◽

Mucopolysaccharidosis Type Vi ◽

Mps Vi ◽

Arylsulfatase B

Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder that results from a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase or arylsulfatase B (ASB). It is a relatively rare disorder, with an estimated incidence of 1 in 248,000 to 1 in 300,000. The diagnosis is made on the basis of findings of elevated urine glycosaminoglycans and a deficiency of ASB activity in leukocytes or cultured fibroblasts. In treatment of MPS VI, enzyme replacement therapy (galsulfase; human recombinant ASB enzyme) became available. Infusions of galsulfase were generally well tolerated. But in some patients, infusion-associated reactions including rash, urticaria, headache, hypotension, nausea, and vomiting were documented and were managed successfully by interrupting or slowing the rate of infusion and/or by the administration of antihistamines, antipyretics, corticosteroids, or oxygen. Here, we report a case with MPS VI who developed thrombocytopenia after third dose of therapy. To the best of our knowledge, this is the first report about thrombocytopenia associated with galsulfase therapy in the literature. Additionally, with this report, we want to share our approach for this case.

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Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome

Pediatric Neurosurgery ◽

10.1159/000511088 ◽

2020 ◽

pp. 1-4

Author(s):

Valentina Orlando ◽

Pietro Spennato ◽

Maria De Liso ◽

Vincenzo Trischitta ◽

Alessia Imperato ◽

...

Keyword(s):

Down Syndrome ◽

Fourth Ventricle ◽

Endoscopic Third Ventriculostomy ◽

Obstructive Hydrocephalus ◽

Radiological Finding ◽

Outlet Obstruction ◽

Third Ventriculostomy ◽

Viable Option ◽

Case Presentation

Introduction: Hydrocephalus is not usually part of Down syndrome (DS). Fourth ventricle outlet obstruction is a rare cause of obstructive hydrocephalus, difficult to diagnose, because tetraventricular dilatation may suggest a communicant/nonobstructive hydrocephalus. Case Presentation: We describe the case of a 6-year-old boy with obstructive tetraventricular hydrocephalus, caused by Luschka and Magendie foramina obstruction and diverticular enlargement of Luschka foramina (the so-called fourth ventricle outlet obstruction) associated with DS. He was treated with endoscopic third ventriculostomy (ETV) without complications, and a follow-up MRI revealed reduction of the ventricles, disappearance of the diverticula, and patency of the ventriculostomy. Conclusion: Diverticular enlargement of Luschka foramina is an important radiological finding for obstructive tetraventricular hydrocephalus. ETV is a viable option in tetraventricular obstructive hydrocephalus in DS.

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Endoscopic third ventriculostomy and cerebrospinal fluid shunting for pure communicating hydrocephalus in children

Child s Nervous System ◽

10.1007/s00381-021-05242-4 ◽

2021 ◽

Author(s):

Kenichi Usami ◽

Eitaro Ishisaka ◽

Hideki Ogiwara

Keyword(s):

Cerebrospinal Fluid ◽

Endoscopic Third Ventriculostomy ◽

Third Ventriculostomy ◽

Communicating Hydrocephalus ◽

Cerebrospinal Fluid Shunting

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Intraventricular pressure in non-communicating hydrocephalus patients before endoscopic third ventriculostomy

Open Medicine ◽

10.1515/med-2019-0107 ◽

2019 ◽

Vol 14 (1) ◽

pp. 909-912

Author(s):

Werner Tiefenthaler ◽

Johannes Burtscher ◽

Patrizia L. Moser ◽

Ingo H. Lorenz ◽

Christian Kolbitsch

Keyword(s):

Endoscopic Third Ventriculostomy ◽

Third Ventriculostomy ◽

Communicating Hydrocephalus ◽

Intraventricular Pressure ◽

Positive End Expiratory Pressure

AbstractBackgroundIn patients with non-communicating hydrocephalus impairment of cerebral compliance can occur pre- but also intraoperatively.MethodologyIn such patients (n = 6) undergoing endoscopic third ventriculostomy (ETV), the present study aimed to investigate the effect of ETCO2 (e.g 40 mmHg and 60 mmHg) and positive end-expiratory pressure (PEEP) (e.g. 6 cm and 12 cm H2O) on intraventricular pressure (IVP).FindingsBefore but not after ETV, hypercapnia in contrast to PEEP increased IVP(before ETV(PEEP-6/ ETCO2-40: 2.6 ± 2.4 mmHg) vs. (PEEP-6/ ETCO2-60: 12 ± 6.4 mmHg*); (PEEP-12/ ETCO2-40: 4.2 ± 4.1 mmHg) vs. (PEEP-12/ ETCO2-60: 13.7 ± 7.6 mmHg*), * significant, P ≤ 0.05;after ETV(PEEP-6/ ETCO2-40: 2.0 ± 1.2 mmHg) vs. (PEEP-6/ ETCO2-60: 4.4 ± 3.1 mmHg); (PEEP-12/ ETCO2-40: 1.6 ± 1.3 mmHg) vs. (PEEP-12/ ETCO2-60: 6.6 ± 2.6 mmHg), * significant, P ≤ 0.05).ConclusionPatients with non-communicating hydrocephalus showed that hypercapnia but not PEEP increases significantly IVP before but not after ETV.

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Endoscopic Third Ventriculostomy in Previously Shunted Children

Minimally Invasive Surgery ◽

10.1155/2013/584567 ◽

2013 ◽

Vol 2013 ◽

pp. 1-4 ◽

Cited By ~ 6

Author(s):

Eva Brichtova ◽

Martin Chlachula ◽

Tomas Hrbac ◽

Radim Lipina

Keyword(s):

Success Rate ◽

Fourth Ventricle ◽

Pediatric Patients ◽

Endoscopic Third Ventriculostomy ◽

Obstructive Hydrocephalus ◽

Surgical Revision ◽

Clinical State ◽

Third Ventriculostomy ◽

Safe Procedure ◽

Shunt Implantation

Endoscopic third ventriculostomy (ETV) is a routine and safe procedure for therapy of obstructive hydrocephalus. The aim of our study is to evaluate ETV success rate in therapy of obstructive hydrocephalus in pediatric patients formerly treated by ventriculoperitoneal (V-P) shunt implantation. From 2001 till 2011, ETV was performed in 42 patients with former V-P drainage implantation. In all patients, the obstruction in aqueduct or outflow parts of the fourth ventricle was proved by MRI. During the surgery, V-P shunt was clipped and ETV was performed. In case of favourable clinical state and MRI functional stoma, the V-P shunt has been removed 3 months after ETV. These patients with V-P shunt possible removing were evaluated as successful. In our group of 42 patients we were successful in 29 patients (69%). There were two serious complications (4.7%)—one patient died 2.5 years and one patient died 1 year after surgery in consequence of delayed ETV failure. ETV is the method of choice in obstructive hydrocephalus even in patients with former V-P shunt implantation. In case of acute or scheduled V-P shunt surgical revision, MRI is feasible, and if ventricular system obstruction is diagnosed, the hydrocephalus may be solved endoscopically.

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Delayed Stoma Failure in Adult Communicating Hydrocephalus After Initial Successful Treatment by Endoscopic Third Ventriculostomy

Neurosurgery ◽

10.1227/01.neu.0000369191.27291.2f ◽

2010 ◽

Vol 66 (6) ◽

pp. E1210-E1211 ◽

Cited By ~ 7

Author(s):

Andrew J. Fabiano ◽

Kristina Doyle ◽

Walter Grand

Keyword(s):

Normal Pressure Hydrocephalus ◽

Endoscopic Third Ventriculostomy ◽

Brain Magnetic Resonance Imaging ◽

Normal Pressure ◽

Symptom Improvement ◽

Third Ventriculostomy ◽

Communicating Hydrocephalus ◽

Stoma Closure ◽

Ventricular Dilation ◽

Memory Problems

Abstract OBJECTIVE To describe 2 cases of delayed endoscopic third ventriculostomy (ETV) failure in 2 adult patients initially successfully treated for normal pressure hydrocephalus by ETV. The cause of ETV failure was stoma closure, and this was documented in both instances by direct endoscopic inspection. CLINICAL PRESENTATION In the first case, a 67-year-old woman presented with progressive gait disturbance, incontinence, and memory problems. Brain magnetic resonance imaging exhibited ventricular dilation, including the fourth ventricle, disproportionate to cortical atrophy. In the second case, a 55-year-old man presented with progressive gait disturbance, urinary incontinence, memory problems, and headaches. Brain magnetic resonance imaging exhibited communicating hydrocephalus. INTERVENTION The first patient underwent an ETV with subsequent improvement in all symptom areas. Three years and 2 months later, she experienced a return of original symptoms and ventricular dilation on brain computed tomography, compared with previous postoperative scans. Direct endoscopic inspection of the third ventricular floor revealed stoma closure secondary to fibrotic scar. The patient subsequently underwent ventriculoperitoneal shunt placement that resulted in symptom improvement. The patient in the second case underwent an ETV that resulted in marked symptom improvement in all areas. Four years and 3 months later, he experienced a return of gait difficulties and headaches. Direct endoscopic inspection showed a lack of cerebrospinal fluid pulsations through the third ventricular stoma and dense arachnoid adhesions around the basilar artery. A repeat ETV was unsuccessful. Subsequent ventriculoperitoneal shunt placement resulted in symptom improvement. CONCLUSION ETV may provide an effective treatment for patients with normal pressure hydrocephalus, a form of communicating hydrocephalus. Stoma closure can be a mechanism of delayed ETV failure in normal pressure hydrocephalus, consistent with reports of ETV failure in pediatric obstructive hydrocephalus.

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