Displaying publications 1 - 20 of 21 in total

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  1. Lim WK, Leong MC, Samion H
    Ann Pediatr Cardiol, 2016 5 24;9(2):183-5.
    PMID: 27212859 DOI: 10.4103/0974-2069.173549
    A 1.7 kg infant with obstructed supracardiac total anomalous pulmonary venous drainage (TAPVD) presented with severe pulmonary hypertension secondary to vertical vein obstruction. The child, in addition, had a large omphalocele that was being managed conservatively. The combination of low weight, unoperated omphalocele, and severe pulmonary hypertension made corrective cardiac surgery very high-risk. Therefore, transcatheter stenting of the stenotic vertical vein, as a bridge to corrective surgery was carried out. The procedure was carried out through the right internal jugular vein (RIJ). The stenotic segment of the vertical vein was stented using a coronary stent. After procedure, the child was discharged well to the referred hospital for weight gain and spontaneous epithelialization of the omphalocele. Stenting of the vertical vein through the internal jugular vein can be considered in very small neonates as a bridge to repair obstructed supracardiac total anomalous venous drainage.
  2. Latiff HA, Alwi M, Kandhavel G, Samion H, Zambahari R
    Ann Thorac Surg, 1999 Oct;68(4):1400-1.
    PMID: 10543517
    A 10-month-old boy underwent operation to close a large secundum atrial septal defect and multiple muscular ventricular septal defects. Closure of the ventricular septal defects was unsuccessful and led to worsening cardiac failure and inability to wean the patient from mechanical ventilation. Transcatheter closure of the ventricular septal defects using Gianturco coils was undertaken. This technique is an effective alternative for closure of multiple muscular ventricular septal defects in infants and small children.
  3. Djer MM, Latiff HA, Alwi M, Samion H, Kandavello G
    Heart Lung Circ, 2006 Feb;15(1):12-7.
    PMID: 16473785
    From November 1997 to June 2002, percutaneous transcatheter closure of muscular ventricular septal defects was attempted in seven patients. Four patients had single and three had multiple defects. Surgical closure was performed in two patients in an attempt to close a perimembranous defect, leaving behind a large apical muscular defect, which was successfully closed using a device in one patient, whilst the second patient succumbed to septicemia/endocarditis 3 weeks after failure of device implantation. One patient had previous pulmonary artery banding and in another intraoperative placement of two Clamshell devices followed by additional transcatheter closure using Gianturco coils in two different sessions was performed.
  4. Latiff HA, Alwi M, Samion H, Kandhavel G
    Cardiol Young, 2002 May;12(3):224-8.
    PMID: 12365167
    This study reviewed the short-term outcome of transcatheter closure of the defects within the oval fossa using an Amplatzer Septal Occluder. From January 1997 to December 2000, 210 patients with defects within the oval fossa underwent successful transcatheter closure. We reviewed a total of 190 patients with left-to-right shunts, assessing the patients for possible complications and the presence of residual shunts using transthoracic echocardiogram at 24 h, 1 month, 3 months and one year. Their median age was 10 years, with a range from 2 to 64 years, and their median weight was 23.9 kg, with a range from 8.9 to 79 kg. In 5 patients, a patent arterial duct was closed, and in 2 pulmonary balloon valvoplasty performed, at the same sitting. The median size of the Amplatzer device used was 20 mm, with a range from 9 to 36 mm. The median times for the procedure and fluoroscopy were 95 min, with a range from 30 to 210 min, and 18.4 min, with a range from 5 to 144 min, respectively. Mean follow-up was 20.8 +/- 12.4 months. Complete occlusion was obtained in 168 of 190 (88%) patients at 24 h, 128 of 133 (96.2%) at 3 months, and 103 of 104 (99%) at one year. Complications occurred in 4 (2.1%) patients. In one, the device became detached, in the second the device embolized into the right ventricular outflow tract, the lower end of the device straddled in the third, and the final patient had significant bleeding from the site of venupuncture. There were no major complications noted on follow-up. We conclude that transcatheter closure of defects within the oval fossa using the Amplatzer Septal Occluder is safe and effective. Long-term follow-up is required, nonetheless, before it is recommended as a standard procedure.
  5. Latiff HA, Samion H, Kandhavel G, Aziz BA, Alwi M
    Cardiol Young, 2001 Mar;11(2):201-4.
    PMID: 11293739
    BACKGROUND: From January, 1997, as part of an international multicentric trial, we have been closing small-to-moderate atrial septal defects within the oval fossa using the Amplatzer Septal Occluder (ASO, AGA Medical).

    METHODS: All patients with defects within the oval fossa deemed potentially suitable for transcatheter closure were investigated by transesophageal echocardiography with the aim of gaining extra information that might alter the decision to use the device to close the defect. Views were obtained in transverse and longitudinal planes, permitting measurements of the diameter of the defect, and its distance from the atrioventricular valves, coronary sinus, and pulmonary veins. Additionally, we sought to identify multiple defects, and to exclude sinus venosus defects.

    RESULTS: Of 56 patients with left-to-right shunts, 41 (73.2%) were deemed suitable for closure with the Amplatzer Septal Occluder. All underwent the procedure successfully, with no complications. This includes 5 patients with multiple small defects that were sufficiently close to the main defect to be closed with a single device. Only two of these had been detected on the transthoracic study. In the remaining 15 of 56 patients, transcatheter closure was deemed unsuitable. In 9 patients, this was due to the limitation of the size of the device available during the period of study, this representing a relative contraindication. In the remaining 6 (10.7%), transcatheter closure was not performed because multiple defects were too far apart to be closed with a single device in 3 patients, two patients were noted to have a sinus venosus defect, and another was noted to have anomalous connection of the right upper pulmonary vein to the right atrium. Excluding patients contraindicated due to the size of the defect alone, transesophageal echocardiography provided extra information in one-tenth of our patients, which altered the decision regarding management.

    CONCLUSION: Transesophageal echocardiography is indispensable in the evaluation of patients undergoing transcatheter closure of atrial septal defect.

  6. Tan JWY, Alwi M, Siew ELL, Samion H
    Catheter Cardiovasc Interv, 2021 Oct;98(4):738-742.
    PMID: 34143549 DOI: 10.1002/ccd.29838
    Ductal stenting in patients with duct-dependent pulmonary circulation has allowed growth of pulmonary arteries prior to definitive surgical procedures. Intraprocedural stent thrombosis (IPST) of the arterial duct is a life-threatening complication as it leads to total circulatory collapse. Previous reports have described use of tissue plasminogen activators in infants for less emergent settings. We report three infants with IPST and the use of tenecteplase to overcome this. Also discussed are the predisposing mechanisms in each scenario and a possibility of direct catheter-guided tenecteplase administration. Judicious use of tenecteplase can be life-saving and rapid access to this drug may obviate the need for emergency extracorporeal life support.
  7. Alwi M, Kang LM, Samion H, Latiff HA, Kandavel G, Zambahari R
    Am J Cardiol, 1997 May 15;79(10):1430-2.
    PMID: 9165178 DOI: 10.1016/s0002-9149(97)00160-4
    Two hundred eleven patients with small- to moderate-sized native patent ductus arteriosus underwent closure using Gianturco coils, employing the transvenous multiple catheter approach. Short-term results showed a high rate of complete occlusion and a potential long-term complication of mild left pulmonary artery stenosis in a small number of patients.
  8. Alwi M, Budi RR, Mood MC, Leong MC, Samion H
    Cardiol Young, 2013 Apr;23(2):197-202.
    PMID: 22640635 DOI: 10.1017/S1047951112000595
    Objective: To determine the feasibility and safety of the Conquest Pro wire as an alternative to radiofrequency wire for perforation of atretic pulmonary valve and subsequent balloon dilatation and patent ductus arteriosus stenting in patients with pulmonary atresia with intact ventricular septum.
    Background: Radiofrequency valvotomy and balloon dilatation has become the standard of care for pulmonary atresia with intact ventricular septum in many institutions today.
    Methods: We report eight consecutive patients in whom we used the Conquest Pro coronary guidewire, a stiff wire normally reserved for revascularisation of coronary lesions with chronic total occlusion, for perforation of atretic pulmonary valve and subsequent balloon dilatation, and stenting of the patent ductus arteriosus.
    Results: Perforation of atretic pulmonary valve was successful in seven out of eight cases. Radiofrequency valvotomy was employed after failure of perforation by the Conquest Pro wire in one case where the right ventricular outflow tract was broad based and tapered towards the pulmonary valve, and was heavily trabeculated. Failure of the Conquest Pro wire to perforate the pulmonary valve plate was mainly attributed by the failure to engage the wire at the correct position.
    Conclusion: The Conquest Pro wire for perforation and subsequent interventions in the more straightforward cases of pulmonary atresia with intact ventricular septum is effective and safe, simplifying the entire procedure. However, the radiofrequency generator and wires remain essential tools in the paediatric interventional catheter laboratory.
  9. Putra ST, Djer MM, Idris NS, Samion H, Sastroasmoro S
    Iran J Pediatr, 2015 Dec;25(6):e3906.
    PMID: 26635945 DOI: 10.5812/ijp.3906
    Transcatheter closure of atrial septal defects (ASD) has been accepted world-wide as an alternative to surgical closure with excellent results. This interventional, non-surgical technique plays an important role in the treatment of ASD mostly in the developing world where resources are limited.
  10. Abdelbasit MA, Alwi M, Kandavello G, Che Mood M, Samion H, Hijazi ZM
    Catheter Cardiovasc Interv, 2015 Jul;86(1):94-9.
    PMID: 25675888 DOI: 10.1002/ccd.25878
    OBJECTIVES: To evaluate the feasibility, safety, and efficacy of the Occlutech® PDA occluder for closure of patent ductus arteriosus (PDA).

    BACKGROUND: The Occlutech® PDA occluder is novel, self-shaping Nitinol wire device with PET (polyethylene terephthalate) patches integrated into the shank of the device to assure a better obturation of the ductus. The Occlutech® PDA occluder has undergone two design modifications.

    METHODS: A prospective, non-randomized pilot study was started in November 2011. Thirty-three patients were included until April 2013. Patients weighing <6 kg or those with associated cardiac anomalies that required surgery were excluded. All patients were followed up by transthoracic echocardiography at 24 hr, 30 days, 90 days, 180 days, and 360 days after implantation. Residual shunt, left pulmonary artery (LPA) and descending aortic velocities were among the parameters assessed. All occluders were delivered via 6-8 F long sheaths and PDA closures were performed following standard techniques.

    RESULTS: Thirty three patients (20 female/13 male), with a median age of 2 years (6 month to 38 years), and median weight of 9.3 kg (6-69.2 kg) were included. The narrowest median PDA diameter was 3mm (1.8-5.8 mm). All the 33 patients were closed successfully using Occlutech ductal occluder, 16 patients (48.4%) had immediate and complete closure on angiography. Within 24 hr, color Doppler revealed complete closure in 27patients (81.8%), 32patients (97%) at 30 days, and in 100% of patients at 90 days. All patients with a large PDA had immediate residual shunt which was closed at the 90-day follow-up. There was no device embolization, hemolysis, or obstruction to the LPA or descending aorta.

    CONCLUSION: The new Occlutech® PDA is safe and effective. In patients with a large PDA complete closure tended to take longer time.

  11. Alwi M, Kandavello G, Choo KK, Aziz BA, Samion H, Latiff HA
    Cardiol Young, 2005 Apr;15(2):141-7.
    PMID: 15845156
    Some patients with pulmonary atresia with an intact ventricular septum, mild to moderate right ventricular hypoplasia, and a patent infundibulum remain duct dependent on the flow of blood through the arterial duct despite adequate relief of the obstruction within the right ventricular outflow tract. The objective of our study was to review the risk factors for stenting of the patent arterial duct, or construction of a Blalock-Taussig shunt, in the patients with pulmonary atresia and an intact ventricular septum who remain duct-dependent following radiofrequency valvotomy and dilation of the imperforate pulmonary valve. We reviewed the data from 53 patients seen between November 1995 and December 2001. Of the 47 patients who survived, 6 required stenting of the patent arterial duct, while 4 needed construction of a modified Blalock-Taussig shunt to augment the flow of blood to the lungs at a mean of 7 plus or minus 5.7 days following the initial intervention. The remaining 37 patients required no additional procedures. We compared the findings in these two groups. The mean diameter of the tricuspid valve in the patients requiring early reintervention was 8.5 plus or minus 3.7 millimetres, giving a Z-score of -1.1 plus or minus 1.47, whilst those in the group without early reintervention had values of 10.7 plus or minus 2.2 millimetres, giving a Z-score of -0.58 plus or minus 1.18 (p equal to 0.003). No statistically significant differences were found in right ventricular morphology, McGoon ratio, or residual obstruction across the right ventricular outflow tract after decompression of the right ventricle. The diameter of the tricuspid valve, therefore, appears to be the only factor predicting the need for augmentation of flow of blood to the lungs. As just over one-fifth of our survivors required such augmentation, we hypothesize that stenting of the patent arterial duct may be performed as an integral part of primary transcatheter therapy in patients with pulmonary atresia and intact ventricular septum who have moderate right ventricular hypoplasia and a small tricuspid valve.
  12. Haranal M, Mood MC, Leong MC, Febrianti Z, Abdul Latiff H, Samion H, et al.
    Interact Cardiovasc Thorac Surg, 2020 08 01;31(2):221-227.
    PMID: 32437520 DOI: 10.1093/icvts/ivaa069
    OBJECTIVES: This study aims to review our institutional experience of ductal stenting (DS) on the growth of pulmonary arteries (PAs) and surgical outcomes of PA reconstruction in this subset of patients.

    METHODS: This is a retrospective study done in neonates and infants up to 3 months of age with duct-dependent pulmonary circulation who underwent DS from January 2014 to December 2015. Post-stenting PA growth, surgical outcomes of PA reconstruction, post-surgical re-interventions, morbidity and mortality were analysed.

    RESULTS: During the study period, 46 patients underwent successful DS, of whom 38 underwent presurgery catheterization and definite surgery. There was significant growth of PAs in these patients. Biventricular repair was done in 31 patients while 7 had univentricular palliation. Left PA augmentation was required in 13 patients, and 10 required central PA augmentation during surgery. The mean follow-up period post-surgery was 4.5 ± 1.5 years. No significant postoperative complications were seen. No early or follow-up post-surgery mortality was seen. Four patients required re-interventions in the form of left PA stenting based on the echocardiography or computed tomography evidence of significant stenosis.

    CONCLUSIONS: DS provides good short-term palliation and the growth of PAs. However, a significant number of stented patients require reparative procedure on PAs at the time of surgical intervention. Acquired changes in the PAs following DS may be the reason for reintervention following PA reconstruction.

  13. Yubbu P, Abdul Latiff H, Musa H, Devaraj NK, Mohd Razif NA, Sivalingam S, et al.
    Cardiol Young, 2021 Jun 03.
    PMID: 34080535 DOI: 10.1017/S1047951121002110
    BACKGROUND: Vascular compression of the airway often complicates CHD management. This study evaluated the use of CT in determining cardiovascular causes, clinical manifestations, and outcome of tracheobronchial compression among children with CHD.

    METHODS: A retrospective review of clinical records of all patients with CT scan evidence of tracheobronchial compression from January 2007 to December 2017 at National Heart Institute. Cardiovascular causes of tracheobronchial compression were divided into three groups; group I: vascular ring/pulmonary artery sling, II: abnormally enlarged or malposition cardiovascular structure due to CHD, III: post-CHD surgery.

    RESULTS: Vascular tracheobronchial compression was found in 81 out of 810 (10%) patients who underwent CT scan. Group I lesions were the leading causes of vascular tracheobronchial compression (55.5%), followed by group II (34.6%) and group III (9.9%). The median age of diagnosis in groups I, II, and III were 16.8 months, 3 months, and 15.6 months, respectively. Half of group I patients are manifested with stridor and one-third with recurrent chest infections. Persistent respiratory symptoms, lung atelectasis, or prolonged respiratory support requirement were clues in groups II and III. Higher morbidity and mortality in younger infants with severe obstructive airway symptoms, associated airway abnormalities, and underlying complex cyanotic CHD.

    CONCLUSIONS: Vascular ring/pulmonary artery sling and abnormally enlarged or malposition cardiovascular structure were the leading causes of cardiovascular airway compression. A high index of suspicion is needed for early detection due to its non-specific presentation. The outcome often depends on the severity of airway obstruction and complexity of cardiac lesions.

  14. Alwi M, Choo KK, Radzi NA, Samion H, Pau KK, Hew CC
    J. Thorac. Cardiovasc. Surg., 2011 Jun;141(6):1355-61.
    PMID: 21227471 DOI: 10.1016/j.jtcvs.2010.08.085
    Objectives: Our objective was to determine the feasibility and early to medium-term outcome of stenting the patent ductus arteriosus at the time of radiofrequency valvotomy in the subgroup of patients with pulmonary atresia with intact ventricular septum and intermediate right ventricle.
    Background: Stenting of the patent ductus arteriosus and radiofrequency valvotomy have been proposed as the initial intervention for patients with intermediate right ventricle inasmuch as the sustainability for biventricular circulation or 1½-ventricle repair is unclear in the early period.
    Methods: Between January 2001 and April 2009, of 143 patients with pulmonary atresia and intact ventricular septum, 37 who had bipartite right ventricle underwent radiofrequency valvotomy and stenting of the patent ductus arteriosus as the initial procedure. The mean tricuspid valve z-score was -3.8 ± 2.2 and the mean tricuspid valve/mitral valve ratio was 0.62 ± 0.16.
    Results: Median age was 10 days (3-65 days) and median weight 3.1 kg (2.4-4.9 kg). There was no procedural mortality. Acute stent thrombosis developed in 1 patient and necessitated emergency systemic-pulmonary shunt. There were 2 early in-hospital deaths owing to low cardiac output syndrome. One late death occurred owing to right ventricular failure after the operation. Survival after the initial procedure was 94% at 6 months and 91% at 5 years. At a median follow-up of 4 years (6 months to 8 years), 17 (48%) attained biventricular circulation with or without other interventions and 9 (26%) achieved 1½-ventricle repair. The freedom from reintervention was 80%, 68%, 58%, and 40% at 1, 2, 3, and 4 years, respectively.
    Conclusions: Concomitant stenting of the patent ductus arteriosus at the time of radiofrequency valvotomy in patients with pulmonary atresia with intact ventricular septum and intermediate right ventricle is feasible and safe with encouraging medium-term outcome.
  15. Alwi M, Choo KK, Latiff HA, Kandavello G, Samion H, Mulyadi MD
    J Am Coll Cardiol, 2004 Jul 21;44(2):438-45.
    PMID: 15261945 DOI: 10.1016/j.jacc.2004.03.066
    Objectives: This study was designed to assess the safety, efficacy, medium-term outcome, and complications of patent ductus arteriosus (PDA) stenting in duct-dependent pulmonary circulation.
    Background: Patent ductus arteriosus stenting has been proposed as an alternative to surgical shunt on account of postoperative morbidity and complications of surgical shunting.
    Methods: Between April 2000 and February 2003, 69 patients with duct-dependent pulmonary circulation underwent cardiac catheterization with the intent of PDA stenting as first palliative procedure. Patients with critical pulmonary stenosis and pulmonary atresia with intact ventricular septum post-radiofrequency valvotomy who had PDA stenting were excluded. Thirteen more patients were excluded because of branch pulmonary artery (PA) stenosis. The follow-up was by clinical examination, echocardiography, and repeat cardiac catheterization at six to nine months following the procedure.
    Results: Patent ductus arteriosus stenting was successful in 51 patients (91.1%) and failed in 5 patients (8.9%). The mean narrowest PDA diameter was 1.9 +/- 0.6 mm. The mean procedure and fluoroscopy time were 95.7 min and 29.4 min, respectively. In one patient the stent dislodged and migrated to the left femoral artery and another patient developed transient intravascular hemolysis. There was no procedure-related mortality. Three patients (5.9%) died one day to two months after the procedure. At follow-up (3.2 months to 2.4 years), 8 patients developed significant stent stenosis requiring reintervention. Seven patients developed worsening of preexisting branch PA stenosis. The freedom from reintervention was 89% and 55% at 6 months and 1 year, respectively.
    Conclusions: Patent ductus arteriosus stenting is an attractive alternative to surgical shunt in a majority of patients with duct-dependent circulation. An absolute contraindication to this technique is the presence of branch pulmonary stenosis.
  16. Ota N, Sivalingam S, Pau KK, Hew CC, Dillon J, Latiff HA, et al.
    PMID: 29310554 DOI: 10.1177/2150135117743225
    OBJECTIVE: We introduced primary arterial switch operation for the patient with transposition of great arteries and intact ventricular septum (TGA-IVS) who had more than 3.5 mm of posterior left ventricle (LV) wall thickness.

    METHODS: Between January 2013 and June 2015, a total of 116 patients underwent arterial switch operation. Of the 116 patients, 26 with TGA-IVS underwent primary arterial switch operation at more than 30 days of age.

    RESULTS: The age and body weight (mean ± SD) at the operation were 120.4 ± 93.8 days and 4.1 ±1.0 kg, respectively. There was no hospital mortality. The thickness of posterior LV wall (preoperation vs postoperation; mm) was 4.04 ± 0.71 versus 5.90 ± 1.3; P < .0001; interval: 11.8 ± 6.5 days. The left atrial pressure (mm Hg; postoperative day 0 vs 3) was 20.0 ± 3.2 versus 10.0 ± 2.0; P < .0001; and the maximum blood lactate level (mmol/dL) was 4.7 ± 1.4 versus 1.4 ± 0.3; P < .0001, which showed significant improvement in the postoperative course. All cases had delayed sternal closure. The patients who belonged to the thin LV posterior wall group (<4 mm [preoperative echo]: n = 13) had significantly longer ventilation time (days; 10.6 ± 4.8 vs 4.8 ± 1.7, P = .0039), and the intensive care unit stay (days) was 14 ± 9.2 versus 7.5 ± 3.5; P = .025, compared with thick LV wall group (≥4.0 mm: n = 13).

    CONCLUSIONS: The children older than 30 days with TGA-IVS can benefit from primary arterial switch operation with acceptable results under our indication. However, we need further investigation for LV function.

  17. Abdul Latiff H, Gopal AR, Hidayat ZF, Haranal M, Borhanuddin BK, Alwi M, et al.
    Cardiol Young, 2023 Nov;33(11):2243-2251.
    PMID: 36651340 DOI: 10.1017/S1047951122004218
    BACKGROUND: The objective was to study the ductus arteriosus morphology in duct-dependent pulmonary circulation and its pattern in different ventricle morphology using CT angiography.

    METHOD: From January 2013 to December 2015, patients aged 6 months and below with duct-dependent pulmonary circulation underwent CT angiography to delineate the ductus arteriosus origin, tortuosity, site of insertion, and pulmonary artery anatomy. The ductus arteriosus were classified into type I, IIa, IIb, and III based on its site of origin, either from descending aorta, distal arch, proximal arch, or subclavian artery, respectively.

    RESULTS: A total of 114 patients and 116 ductus arteriosus (two had bilateral ductus arteriosus) were analysed. Type I, IIa, IIb, and III ductus arteriosus were seen in 13 (11.2 %), 71 (61.2%), 21 (18.1%), and 11 (9.5%), respectively. Tortuous ductus arteriosus was found in 38 (32.7%), which was commonly seen in single ventricular lesions. Ipsilateral and bilateral branch pulmonary artery stenosis was seen in 68 (59.6%) and 6 (5.3%) patients, respectively. The majority of patients with pulmonary atresia intact ventricular septum had type I (54.4%) and non-tortuous ductus arteriosus, while those with single and biventricular lesions had type II ductus arteriosus (84.9% and 89.7%, respectively). Type III ductus arteriosus was more common in biventricular lesions (77.8%).

    CONCLUSIONS: Ductus arteriosus in duct-dependent pulmonary circulation has a diverse morphology with a distinct origin and tortuosity pattern in different types of ventricular morphology. CT may serve as an important tool in case selection and pre-procedural planning for ductal stenting.

  18. Piaw CS, Kiam OT, Rapaee A, Khoon LC, Bang LH, Ling CW, et al.
    Cardiovasc Intervent Radiol, 2006 Mar-Apr;29(2):230-4.
    PMID: 16252078
    Transesophageal echocardiography (TEE) is a trusted method of sizing atrial septal defect (ASD) prior to percutaneous closure but is invasive, uncomfortable, and may carry a small risk of morbidity and mortality. Magnetic resonance imaging (MRI) may be useful non-invasive alternative in such patients who refuse or are unable to tolerate TEE and may provide additional information on the shape of the A0SD.
  19. Bhattacharya K, Balasubramaniam S, Choy YS, Fietz M, Fu A, Jin DK, et al.
    Orphanet J Rare Dis, 2014;9:192.
    PMID: 25433535 DOI: 10.1186/s13023-014-0192-7
    Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.
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