Morquio syndrome is a subtype of mucopolysaccharidoses, wherein the accumulation of glycosaminoglycans (GAGs) in various organ systems lead to alteration of anatomy and physiology. Most prominent features are extensive bony abnormalities, which normally require surgical correction. This paper reports the case of a 7-year-old child with Morquio syndrome who successfully underwent correction of genu valgum under general endotracheal anesthesia via asleep induction and videolaryngoscopy, with supplemental peripheral nerve block. The precautions and anesthetic care done to ensure a safe procedure are discussed, especially with anticipation of a possible difficult airway.
Mucopolysaccharidosis IV ; Mucopolysaccharidoses ; Anesthesia

Objective: To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). Methods: A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample t test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. Results: One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (n=85), intermediate (n=14), and mild (n=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 s at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) s in males and (-6.4±1.2) s in females, and the score of weight got (-3.0±1.1) s in males and (-3.5±0.5) s in females. The height of intermediate patients began to fall below -2 s at the age of 7-<10 years, and the standard deviation score of height were -4.6 s and -3.6 s in 2 males, and -4.6 s and -3.8 s in 2 females at the age of 10-<15 years. The weight remained within -2 s in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 s. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (Z=9.91, 13.98, P=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (Z=8.56, P=0.010). Conclusions: The clinical manifestations of MPS ⅣA are charactered by pectus carinatum, motor function impairment, spinal deformity and growth retardation. The clinical characteristics, growth rate and enzyme activity differ among the 3 subtypes of MPS ⅣA.
Male ; Child ; Female ; Humans ; Adolescent ; Mucopolysaccharidosis IV ; Pectus Carinatum ; Retrospective Studies ; Snoring ; China ; Mucopolysaccharidoses ; Growth Disorders ; Vision Disorders

OBJECTIVE: To explore the long-term efficacy of allogeneic hematopoietic stem cell transplantation (alloHSCT) in patients with Mucopolysaccharidosis (MPS), which has rarely been reported in China. METHODS: A 18-month-old boy and a 23-month-old girl undergoing alloHSCT for MPS VI and MPS IH Shanghai Children's Medical Center on March 30, 2006 and September 6, 2006 were selected as the study subjects. A busulfan-based myeloablative regimen was used as the conditioning regimen. Peripheral stem cells were respectively collected from a human leucocyte antigen (HLA) matched sibling carrier donor and a HLA 9/10 matched unrelated donor. Both patients were followed up for more than 15 years. The functions of internal organs before and after the transplantation were compared, and child 1 was also compared with his untreated brother and healthy brother. RESULTS: Both children have achieved full donor chimerism after the transplantation, and their enzymatic activities have remained stable. The enzymatic activity of the child 1 was slightly lower than normal but similar to that of his carrier donor, whilst that of the child 2 was normal. Both children have attended schools with good academic performance. Compared with his untreated brother, the respiratory function and hearing of child 1 have significantly improved. However, his orthopedic and cardiac disorders have still remained and required medical intervention. For child 2, her obstructive pulmonary disease was resolved and cognitive development was well preserved after the HSCT. Her heart disease has become stabilized and even improved with time, though her corneal clouding and skeletal malformation still required surgery. CONCLUSION MPS patients can sustain long-term and stable enzymatic activities after successful alloHSCT. Compared with untreated patients, their health can be significantly improved, along with considerably prolonged survival, though the long-term efficacy of HSCT for different organs may vary to a certain extent.
Humans ; Child ; Male ; Female ; Infant ; Child, Preschool ; Graft vs Host Disease/etiology* ; China ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Mucopolysaccharidoses/etiology* ; Busulfan ; Treatment Outcome

Consensus ; Humans ; Mucopolysaccharidoses/therapy* ; Mucopolysaccharidosis IV ; Mucopolysaccharidosis VI

OBJECTIVE: This study reviewed the profiles and outcomes of patients diagnosed to have the five most common inherited metabolic diseases (IMDs) in the Metabolic Registry of the National Institutes of Health - Institute of Human Genetics (NIH-IHG) from 1999 to 2016.

METHODS: The medical records of the patients diagnosed with the following inherited metabolic diseases were reviewed: maple syrup urine disease (MSUD), galactosemia, hyperphenylalaninemias (including classical phenylketonuria, mild hyperphenylalaninemia, and pterin defects), mucopolysaccharidoses (MPS), and adrenoleukodystrophy (ALD).

RESULTS: There was a total of 567 patients with IMDs, giving a minimum estimated burden of 1.9 per 100,000 livebirths (1:51,760). Clinical presentations were similar to those reported in literature. Majority of the cases of galactosemia and hyperphenylalaninemias presented with a positive newborn screening result. The local prevalence of MSUD and MPS II were higher compared to international data, which may be explained by reported founder mutations among Filipinos. Majority of the patients with IMDs were diagnosed late leading to preventable developmental delay or intellectual disability and death. Majority of patients with MSUD (80.6%) and MPS (94.7%) had intellectual disability or developmental delay. Mortality was 50.5% among patients with MSUD and 100% among patients with adrenoleukodystrophy.

CONCLUSION: There is a diversity of IMDs present in the country. A long-term strategic plan, such as the full implementation of the National Rare Disease Act, is foreseen to improve access to comprehensive healthcare and quality of life of patients with IMDs in the country.

Mucopolysaccharidosis (MPS) is an inherited metabolic disorder caused by a deficiency in enzymes that participate in the degradation of glycosaminoglycans (GAGs) such as heparin sulfate and dermatan sulfate. Left untreated, patients show progressive mental and physical deterioration due to deposition of GAGs in organs. Death often occurs due to cardiac or respiratory failure before patients reach their early twenties. MPS has several oral and dental manifestations. An enlarged head, short neck, and open mouth associated with a large tongue are major characteristics of MPS patients. Dental complications can be severe, including unerupted dentition, dentigerous cyst-like follicles, malocclusions, condylar defects, and gingival hyperplasia. A 21-year-old female patient with MPS was described in this article, with special emphasis on oral manifestations and dental treatment.
Dental Pulp Cavity ; Dentition ; Dermatan Sulfate ; Female ; Gingival Hyperplasia ; Glycosaminoglycans ; Head ; Heparin ; Humans ; Malocclusion ; Mouth ; Mucopolysaccharidoses ; Neck ; Oral Manifestations ; Respiratory Insufficiency ; Root Canal Therapy ; Tongue ; Young Adult

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea
Age of Onset ; Blastomeres ; Dermatan Sulfate ; Diagnosis ; Embryonic Structures ; Female ; Heparitin Sulfate ; Humans ; Korea ; Lysosomal Storage Diseases ; Lysosomes ; Male ; Mucopolysaccharidoses ; Mucopolysaccharidosis II ; Multiplex Polymerase Chain Reaction ; Parturition ; Phenotype ; Polymerase Chain Reaction ; Preimplantation Diagnosis ; Prostaglandins D

Carpal tunnel syndrome is rare in children. When it does occur in children, the most common causes reported are mucopolysaccharidosis and mucolipidosis. The median artery is a transitory vessel that develops from the axillary artery in early embryonic life and does not normally survive until postfetal life. In a small percentage of individuals, however, it persists into adulthood and is frequently accompanied by a bifid median nerve. A persistent median artery can be a cause of carpal tunnel syndrome in adults, but it is extremely rare in children and adolescents. This paper reports a case of a carpal tunnel syndrome caused by a persistent median artery and bifid median nerve in a 13-year-old girl.
Adolescent ; Adult ; Arteries ; Axillary Artery ; Carpal Tunnel Syndrome ; Child ; Female ; Humans ; Median Nerve ; Mucolipidoses ; Mucopolysaccharidoses

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.
Diagnosis ; Epilepsy ; Family Planning Services ; Follow-Up Studies ; Heparitin Sulfate ; Humans ; Intellectual Disability ; Lysosomal Storage Diseases ; Mucopolysaccharidoses* ; Mucopolysaccharidosis III* ; Pneumonia

Pediatric diseases are important because diagnosis and care for these can be complex. Among them, specific diseases have been associated with ocular involvement. This review presents the ocular manifestations of various pediatric diseases relevant to the clinician. An array of ocular manifestations of hyperthyroidism, hypoparathyroidism, diabetes mellitus, porphyria, cystinosis, mucopolysaccharidosis, Wilson disease, juvenile idiopathic arthritis, systemic lupus erythematosus, Marfan syndrome, Weill-Marchesani syndrome are described. In this review we will review ocular manifestations of systemic pediatric diseases for comprehensive understanding of eye involvement. With this review, authors can recognize the ocular manifestations for diagnosis and management of pediatric systemic diseases.
Arthritis, Juvenile ; Cystinosis ; Diabetes Mellitus ; Diagnosis ; Hepatolenticular Degeneration ; Hyperthyroidism ; Hypoparathyroidism ; Lupus Erythematosus, Systemic ; Marfan Syndrome ; Mucopolysaccharidoses ; Pediatrics ; Porphyrias ; Weill-Marchesani Syndrome