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Child of Hurler syndrome with (a) frontal bossing (dolicocephalic) of head, and (b) short stubby fingers with wide wrist
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Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorder characterized by progressive multiorgan accumulation of glycosaminoglycans. Patients with MPS I (Hurler's syndrome) present as one of the most difficult airway problems to be managed by anesthesiologists. Hydrocephalus with increased intracranial pressure is a frequent complicat...
Citations
... 477 Case reports observed intubation successes with bougies, introducers, and stylets for patients with unanticipated or emergency difficult airways (Category B4-B evidence). 114,[478][479][480][481][482][483][484][485] Nonrandomized studies comparing videolaryngoscopes with direct laryngoscopy reported equivocal findings for intubation success with difficult airways in emergency departments (Category B1-E evidence). 6,486,487 Observational studies indicated successful videolaryngoscope-guided intubation rates after failed intubation ranging from 92 to 100% for unanticipated and emergency difficult airways (Category B4-B evidence). ...
The American Society of Anesthesiologists; All India Difficult Airway Association; European Airway Management Society; European Society of Anaesthesiology and Intensive Care; Italian Society of Anesthesiology, Analgesia, Resuscitation and Intensive Care, Learning, Teaching and Investigation Difficult Airway Group; Society for Airway Management; Society for Ambulatory Anesthesia; Society for Head and Neck Anesthesia; Society for Pediatric Anesthesia; Society of Critical Care Anesthesiologists; and the Trauma Anesthesiology Society present an updated report of the Practice Guidelines for Management of the Difficult Airway.
... The difficult airway encountered in Hurler's syndrome is attributed to the presence of macrocephaly, macroglossia, odontoid hypoplasia, dental distortions, gingival hyperplasia, swollen epiglottis, tonsillar enlargement, and anteriorization of the larynx. 2,5 Face mask ventilation could be difficult and an adequate seal can be achieved with the help of an inverted mask technique. 5 Narrowing of laryngeal and tracheobronchial cartilage often necessitates the need for a smaller-sized ETT. 1 In our case, we secured the airway with a 3.5 size tube rather than in accordance with the appropriate for age formula, due to apparently smaller glottis which can be attributed to the deposition of glycosaminoglycans in the airway. ...
... 2,5 Face mask ventilation could be difficult and an adequate seal can be achieved with the help of an inverted mask technique. 5 Narrowing of laryngeal and tracheobronchial cartilage often necessitates the need for a smaller-sized ETT. 1 In our case, we secured the airway with a 3.5 size tube rather than in accordance with the appropriate for age formula, due to apparently smaller glottis which can be attributed to the deposition of glycosaminoglycans in the airway. We were able to ventilate without any leak. ...
Hurler’s syndrome is a rare genetic disease characterized by progressive multiorgan accumulation of glycosaminoglycans. It is associated with progressive craniofacial, skeletal, and cardiac involvement, which increases the risk of anesthesia. Patients with Hurler’s syndrome could present as the worst airway management problem an anesthesiologist could deal with due to abnormal upper airway anatomy and limited neck manipulation, owing to the atlantoaxial instability. We report a case of difficult airway scenario of a child with Hurler’s syndrome, leading to an apparent cannot ventilate cannot intubate scenario, which was managed successfully with the help of a C-MAC video laryngoscope with unique D-blade. In Hurler’s syndrome, C-MAC with D-blade is an excellent tool in establishing an airway in a pediatric difficult airway scenario. Moreover, D-blade C-MAC could be considered as the primary tool for establishing an airway in pediatric patients with Hurler’s syndrome.
... Laring pada bayi berbentuk funnel shaped, dengan bagian tersempit setinggi krikoid, dimana ini merupakah bagian jalan napas bayi yang paling kecil. Hal ini membuat bayi memiliki resiko untuk mengalami obstruksi subglotik sekunder akibat edema mukosa karena penggunaan intubasi endotrakeal yang lama dengan pipa endotrakeal yang ukurannya pas di trakea.17 Jalan napas harus diamankan dengan pipa endotrakeal dengan ukuran yang tepat dan dilakukan pernafasan terkontrol. ...
... Perhatian ekstra untuk mengamankan pipa endotrakeal harus dilakukan pada posisi ini. Ahli anestesi harus melakukan auskultasi pada kedua lapangan paru untuk memastikan pipa endotrakeal tidak mengalami migrasi.[16][17][18] Tujuan dari terapi cairan adalah untuk mempertahankan perfusi otak, yang biasanya diterjemahkan dengan rumatan yang isovolemik, isoosmolar, dan isoonkotik volume darah. ...
Sindrom Dandy Walker termasuk hidrosefalus yang sangat jarang terjadi dengan insiden 1 kasus dari 65 kasus hidrosefalus berdasarkan penelitian profil hidrosefalus di RSUDZA Banda Aceh. Insiden di Indonesia sebanyak 50–60% kasus dari operasi bedah saraf. Kasus berikut seorang bayi laki-laki lahir prematur, umur 1 bulan, berat badan 3,5 kg, ukuran lingkar kepala 45 cm, muntah dan kejang. CT-Scan terdapat kista, kalium 7 mmol/l ditegakkan diagnosa sindrom Dandy Walker dengan hiperkalemia. Manajemen neuroanestesi dengan cara premedikasi dan pemasangan kateter intravena 24G dengan sevofluran via masker O2 100% setelah jalur vena terpasang, diberikan fentanil 10 mcg sebagai analgetik dan induksi propofol 10 mg. Rocuronium 3,5 mg sebagai fasilitas intubasi. Pemeliharaan anestesi dengan sevofluran dan oksigen. Ventilasi frekuensi nafas 30 x/menit dilakukan manual dan kemudian dengan ventilator TV 30 ml, I:E = 1:1,5, RR 30 kali per menit, FiO2 100%. Monitoring hasil frekuensi nadi 100 – 130 kali per menit, SpO2 100%, suhu afebris, CO2 30 mmHg. Simpulan: sindrom Dandy Walker kasus yang sangat jarang terjadi dan hidrosefalus sering bersamaan dengan hiperkalemia terjadi pada bayi prematur karena gangguan reaborbsi kalium dan terjadi perpindahan kompartemen dari intraseluler ke ekstraseluler sehingga kalium banyak di ekstraseluler, maka diperlukan manajemen neuroanestesi pediatrik yang adekuat.
Neuroanesthesia Management in Dandy Walker Syndrome with Hyperkalemia
Abstract
Dandy Walker syndrome including hydrocephalus which is a very rare case with the incidence of 1 case out of 65 cases of hydrocephalus based on a study of hydrocephalus profile at Zainal Abidin Hospital, Banda Aceh. The incidence of Dandy-Walker syndrome in Indonesia are about 50 - 60% cases from all of neurosurgical cases. The following case was a premature baby, 1 month old, weight 3.5 kg, head cicumference 45 cm, vomit and seizure. Cyst was found in the head CT scan and the potassium level of 7 mmol/l. The patient was diagnosed with Dandy-Walker Syndrome with hyperkalemia. Neuroanesthesia management by premedication and infusion using intravenous cathether 24G with sevoflurane and 100% O2 mask After succesful intravenous cathether, given fentanyl 10 mcg as analgesic and propofol 10 mg as induction. Rocuronium 3.5 mg as a facility for intubation. Maintenance of anesthesia with sevoflurane and oxygen. Respiratory rate 30 breaths per minute with ventilation that was done manually and then with TV on ventilator 30 ml, I: E = 1: 1.5, RR 30x/min, FiO2 100%. Monitoring pulse frequency results of 100–130 beats per minute, 100% SpO2, temperature afebrile, CO2 30 mmHg. Conclusions: Dandy-Walker Syndrome was a very rare case and hydrocephalus was often followed with hyperkalemia that occur in premature infants due to potassium reaboration disorder and the displacement of compartment from intracellular to extracellular so that potassium was abundant at extracellular, hence adequate pediatric neuroanesthesia management was needed.
... Therefore, programmable valves may also be a better option for MPS patients where ventricular size can be large, although there is a risk of valve pressure changes with MRI. As discussed previously, anesthetic complications may also occur during surgery [54]. ...
The mucopolysaccharidosis (MPS) disorders are ultra-rare lysosomal storage disorders associated with progressive accumulation of glycosaminoglycans (GAGs) in cells and tissues throughout the body. Clinical manifestations and progression rates vary widely across and within the different types of MPS. Neurological symptoms occur frequently, and may result directly from brain damage caused by infiltration of GAGs, or develop secondary to somatic manifestations such as spinal cord compression, hydrocephalus, and peripheral nerve entrapment. Management of secondary neurological manifestations often requires surgical correction of the underlying somatic cause. The present review discusses the surgical management of neurological disease in patients with MPS, including diagnostic imaging. Background information is derived from presentations and discussions during a meeting on the brain in MPS, attended by an international group of experts (April 28-30, 2016, Stockholm, Sweden), and additional literature searches.
... 2 They have narrow nasal passages, enlarged tongues, short and immobile necks, hypoplastic mandibles, increased tonsillar and adenoid size, engorged soft tissues of the nasopharynx, and narrowed trachea with thickened epiglottis and vocal cords, causing upper and lower airway obstruction and restrictive lung disease. 3,4 Although sleep apnea in these patients is frequently attributed to upper airway obstruction, we report a case of sleep apnea in this population caused by hydrocephalus. ...
... 10 Venous hypertension has been proposed as one of the possible causes responsible for ventricular and sulci enlargement in these patients. 4 The improvement in obstructive sleep apnea in this case can be attributed to improvement in vocal cord function or motor innervation of upper airway musculature, such as the pharyngeal dilators, which could have previously been compromised by nerve compression from the patient's hydrocephalus. Surgical options for the obstructive sleep apnea in this patient would have been limited given the nonfocal anatomic obstructions. ...
This case involves a 13-month-old male with Hurler syndrome. Due to oxygen desaturations during sleep, this patient was referred for polysomnography, which revealed severe mixed sleep apnea (apnea hypopnea index [AHI] 72 events/h). Because sleep apnea in patients with Hurler syndrome is frequently attributed to upper airway obstruction, he was referred to otolaryngology. Prior to his evaluation by otolaryngology, he underwent ventriculoperitoneal (VP) shunt placement, which had been scheduled due to hydrocephalus on brain magnetic resonance imaging (MRI). After VP shunt placement, his oxygen desaturations during sleep resolved. Repeat polysomnogram revealed mild sleep apnea (AHI 1.9). The etiology of his sleep apnea was likely his hydrocephalus. This is the first report of a patient with Hurler syndrome with sleep apnea which markedly improved with ventriculostomy and VP shunt placement. This highlights the importance of considering neurological etiologies for sleep apnea in Hurler's patients, despite their predisposition for airway obstruction.
... Well thought anaesthetic plan is necessary before the induction of case; equipments related to managing difficult airway should be prepared including fiberoptic bronchoscope. In managing two similar cases Gupta, et al. observed Cormack-Lehane (CL) grade IV and III subsequently [8] . It is now established that patients with hurler syndrome has challenge to anesthesiologist particularly airway is concern. ...
... Ahli anestesi harus melakukan auskultasi pada kedua lapangan paru untuk memastikan pipa endotrakeal tidak mengalami migrasi. 2,7,9 Umumnya diberikan ganjal berupa kain yang digulung yang diletakkan di bawah bahu agar membuat garis lurus dari telinga/ leher ke abdomen pada saat pembuatan terowongan (tunneling) pemasangan shunt. 2 Mata harus diproteksi dari kekeringan dan cedera. ...
Hidrosefalus merupakan suatu kelainan yang sering ditemukan pada anak dimana terjadi dilatasi pada sistem ventrikel otak akibat akumulasi cairan otak dengan berbagai penyebab. Secara klinis, gambaran kenaikan tekanan intrakranial pada anak berbeda sesuai perkembangan usianya. Adanya kenaikan tekanan intrakranial ini memberikan konsekuensi klinis berupa intervensi pembedahan, karena bila tidak bisa berakibat fatal. Beberapa alternatif tindakan yang biasanya dilakukan terutama adalah pemasangan pintasan (shunt) untuk mengalirkan cairan otak keluar, sehingga tekanan intrakranial kembali normal. Manajemen perioperatif anestesi terutama dikhususkan berdasarkan kondisi klinis penderita, pemilihan obat-obat anestesi yang digunakan, pengelolaan jalan napas dan perawatan pascabedah. Hal ini menjadi suatu tantangan bagi ahli anestesi, karena adanya tekanan intrakranial yang tinggi, kesadaran yang menurun, resiko aspirasi dan bentuk anatomi jalan napas yang berbeda dengan dewasa, sehingga perlu perhatian khusus pada saat mengamankan jalan napas dan pengelolaan anestesi.
Anaesthetic Management for Hydrocephalus in Children
Hydrocephalus is an abnormal condition, often found in children, where there is a dilatation in the brain ventricle system due to the accumulation of cerebrospinal fluid because of many etiologies. Clinical feature demonstrates increasing intracranial pressure in children which is different type at any age. This condition needs an interventional surgery. Usually the neurosurgeon will insert a shunt to drain the cerebrospinal fluid lower the intracranial pressure back to normal values. Anesthetic perioperative management is especially based on the clinical condition of the patient, selected the anesthetic agent, airway management and post-operative care. This has become a challenge for the anesthesiologist, because of increasing intracranial pressure, decreased consciousness status, aspiration risk and different anatomical airway form compared to adults, which require special attention to secure the airway.
... Ahli anestesi harus melakukan auskultasi pada kedua lapangan paru untuk memastikan pipa endotrakeal tidak mengalami migrasi. 2,7,9 Umumnya diberikan ganjal berupa kain yang digulung yang diletakkan di bawah bahu agar membuat garis lurus dari telinga/ leher ke abdomen pada saat pembuatan terowongan (tunneling) pemasangan shunt. 2 Mata harus diproteksi dari kekeringan dan cedera. ...
Hurler syndrome (mucopolysaccharidosis type I) is a lysosomal storage disorder with autosomal recessive inheritance secondary to alpha-L-iduronidase deficiency. This syndrome is associated with a high risk of anesthesia because several anatomical abnormalities predispose to mechanical obstruction, to sleep apnea and especially to difficult intubation. These abnormalities include a short neck with limited mobility, an elevated epiglottis, a deep cranial fossa that narrows the nasopharynx, a hypoplastic mandible, ankylosis of the temporomandibular joint, infiltration of pharyngeal tissue and tracheal cartilage. , intraluminal narrowing of the airways, macroglossia, friable oral mucosa, tonsillar hypertrophy, and abundant secretions. There are currently no formal recommendations, although the literature reports several techniques: direct laryngoscopy, laryngeal breathing mask, video laryngoscopy, intubation with a flexible fiberscope, retrograde intubation, and in extreme cases rescue tracheotomy. Through our clinical observation, we will describe the methods of anesthetic management and discuss the various strategies reported in the literature.
Despite a known association of mucopolysaccharidoses (MPS) and craniosynostosis, treatment of elevated intracranial pressure (ICP) in these patients is primarily cerebrospinal fluid (CSF) shunting. We present a unique case of Hurler-Scheie syndrome with multisuture craniosynostosis and elevated ICP, without ventriculomegaly, where elevated ICP was successfully treated with extensive cranial vault expansion and shunt placement was avoided. Patients with MPS should be evaluated for craniosynostosis, and calvarial vault expansion may be considered as a viable treatment alternative to CSF shunting for elevated ICP in select patients.
