Gallbladder abnormalities in children with metachromatic leukodystrophy

Kim, Jina; Sun, Zhifei; Ezekian, Brian; Schooler, Gary R.; Prasad, Vinod K.; Kurtzberg, Joanne; Rice, Henry E.; Tracy, Elisabeth T.

doi:10.1016/j.jss.2016.08.081

Cited by 23 publications

(17 citation statements)

References 20 publications

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“…Acute GVHD grade II-IV at day 100 was diagnosed and graded according to published criteria. 14 Chronic GVHD at 5 years was graded according to standard criteria 15 16,17 and adrenal insufficiency for patients with X-ALD (as reported by local clinicians).…”

Section: Outcomes Of Interestmentioning

confidence: 99%

Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies

et al. 2018

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Leukodystrophies (LD) are devastating inherited disorders leading to rapid neurological deterioration and premature death. Hematopoietic stem cell transplantation (HSCT) can halt disease progression for selected LD. Cord blood is a common donor source for transplantation of these patients because it is rapidly available and can be used without full HLA matching. However, precise recommendations allowing care providers to identify patients who benefit from HSCT are lacking. In this study, we define risk factors and describe the early and late outcomes of 169 patients with globoid cell leukodystrophy, X-linked adrenoleukodystrophy, and metachromatic leukodystrophy undergoing cord blood transplantation (CBT) at an European Society for Blood and Marrow Transplantation center or at Duke University Medical Center from 1996 to 2013. Factors associated with higher overall survival (OS) included presymptomatic status (77% vs 49%; = .006), well-matched (≤1 HLA mismatch) CB units (71% vs 54%; = .009), and performance status (PS) of >80 vs <60 or 60 to 80 (69% vs 32% and 55%, respectively; = .003). For patients with PS≤60 (n = 20) or 60 to 80 (n = 24) pre-CBT, only 4 (9%) showed improvement. Of the survivors with PS>80 pre-CBT, 50% remained stable, 20% declined to 60 to 80, and 30% to <60. Overall, an encouraging OS was found for LD patients after CBT, especially for those who are presymptomatic before CBT and received adequately dosed grafts. Early identification and fast referral to a specialized center may lead to earlier treatment and, subsequently, to improved outcomes.

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Section: Outcomes Of Interestmentioning

confidence: 99%

Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies

et al. 2018

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“…Some leukodystrophies show systemic involvement such as gall bladder abnormalities in metachromatic leukodystrophy 13 and adrenal insufficiency in X-linked adrenoleukodystrophy. 14 Conversely, few studies have focused on the systemic involvement or GFAP alteration in the visceral organs, including enteric glial cells in the digestive system of patients with AxD.…”

Section: Discussionmentioning

confidence: 99%

Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years

Tsuji

Tanaka

et al. 2020

Neuropediatrics

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Patients with infantile Alexander disease (AxD) usually do not survive beyond their early teens without life support care because of progressive central hypoventilation. We present the autopsy report of a woman with infantile AxD carrying an R239C mutation in the glial fibrillary acidic protein gene, who survived 39 years. She presented with psychomotor retardation in infancy and regressed after age 5. Brain computed tomography scans showed bilateral low frontal white matter density. She became quadriplegic with bulbar palsy and was intellectually handicapped after a measles infection at age 7. Tube feeding was introduced because of dysphagia at age 15. Noninvasive positive pressure ventilation was required due to central hypoventilation in her early thirties. She died of neurogenic respiratory failure at 39 years. Autopsy findings revealed a markedly atrophic brain (709 g, −6.0 standard deviation), especially in the frontal lobe, cerebellum, and brainstem portions. We found demyelination, gliosis, and cystic lesions throughout the brain, and we saw Rosenthal fibers accumulating in the perivascular spaces. We also identified a variety of abnormalities in other organs such as pancreatic necrosis, completely desquamated epithelium in the lower esophagus and stomach, foreign-body giant cells in the colon submucosa, glomerular sclerosis, and multiple bladder stones. This is the first autopsied case report of a patient with infantile AxD with long survival, who showed not only central nervous system characteristic findings, but also unexpected pathological changes in other organs.

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“…Patients proceeding to HSCT must also undergo standard pre-HSCT testing to determine final eligibility for the procedure (Supplementary Table 2). Additional disease-specific evaluations include adrenal function and gallbladder ultrasonography in cALD [8] and MLD patients [23,24], respectively.…”

Section: General Considerationsmentioning

confidence: 99%

Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network

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Stenger

Connelly

et al. 2019

Biology of Blood and Marrow Transplantation

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The leukodystrophies are a heterogeneous group of inherited diseases characterized by progressive demyelination of the central nervous system leading to devastating neurologic symptoms and premature death. Hematopoietic stem cell transplantation (HSCT) has been successfully used to treat certain leukodystrophies, including adrenoleukodystrophy, globoid leukodystrophy (Krabbe disease), and metachromatic leukodystrophy, over the past 30 years. To date, these complex patients have primarily been transplanted at a limited number of pediatric centers. As the number of cases identified through pregnancy and newborn screening is increasing, additional centers will be required to treat these children. Hunter's Hope created the Leukodystrophy Care Network in part to create and standardize high-quality clinical practice guidelines to guide the care of affected patients. In this report the clinical guidelines for the care of pediatric patients with leukodystrophies undergoing treatment with HSCT are presented. The initial transplant evaluation, determination of patient eligibility, donor selection, conditioning, supportive care, and post-transplant follow-up are discussed. Throughout these guidelines the need for early detection and treatment and the role of the partnership between families and multidisciplinary providers are emphasized.

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Gallbladder abnormalities in children with metachromatic leukodystrophy

Cited by 23 publications

References 20 publications

Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies

Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies

Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years

Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network

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