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

Scleredema Diabeticorum is a rare fibromucinous connective tissue disease, with only 27 cases reported in the Philippines. This condition is linked to diabetes mellitus, characterized by skin thickening and induration, particularly on the neck and upper back. This condition results from excessive collagen deposition and is often seen in patients with poorly controlled blood glucose levels. Timely identification and intervention are crucial for enhancing patient outcomes.

This is a case of a 46-year-old Filipino woman, initially treated as a case of psoriasis vulgaris, with a 3-year history of skin thickening and induration on the upper back and nape with progressive limited range of motion. These findings were not elicited upon initial consultation, only to be unveiled later, adding complexity to her condition. Further investigation revealed an elevated HbA1C of 10.7%. Histopathology showed thickened collagen bundles, leading to a diagnosis of scleredema diabeticorum. She underwent UVA1 phototherapy, with a total of 40 sessions, twice a week with the maximum dose of 90 J/cm2 and oral Methotrexate with a dose of 10mg/week. The patient showed significant improvement in induration and range of motion. Patient was referred to Internal Medicine for co-management.

In conclusion, this case highlights the complexity of diagnosing scleredema diabeticorum in a patient initially treated for psoriasis vulgaris. The discovery of skin induration and elevated HbA1C emphasizes the need for thorough re-evaluation in chronic conditions. The patient’s positive response to UVA1 phototherapy and methotrexate demonstrates its effectiveness, reinforcing the importance of continuous evaluation in complex dermatological cases.

Humans ; Mucopolysaccharidosis I/therapy* ; Consensus

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 <i>ti> 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 (<i>ni>=85), intermediate (<i>ni>=14), and mild (<i>ni>=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 <i>si> 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) <i>si> in males and (-6.4±1.2) <i>si> in females, and the score of weight got (-3.0±1.1) <i>si> in males and (-3.5±0.5) <i>si> in females. The height of intermediate patients began to fall below -2 <i>si> at the age of 7-<10 years, and the standard deviation score of height were -4.6 <i>si> and -3.6 <i>si> in 2 males, and -4.6 <i>si> and -3.8 <i>si> in 2 females at the age of 10-<15 years. The weight remained within -2 <i>si> 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 <i>si>. 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 (<i>Zi>=9.91, 13.98, <i>Pi>=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (<i>Zi>=8.56, <i>Pi>=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 clinical and genetic characteristics of a patient with hypertrophic cardiomyopathy as the initial manifestation of Mucopolysaccharidosis type Ⅲ A (MPS Ⅲ A). METHODS: A female patient with MPS Ⅲ A who was admitted to the Affiliated Hospital of Jining Medical University in January 2022 and her family members (seven individuals from three generations) were selected as the study subjects. Clinical data of the proband were collected. Peripheral blood samples of the proband was collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. Heparan-N-sulfatase activity was determined for the disease associated with the variant site. RESULTS: The proband was a 49-year-old woman, for whom cardiac MRI has revealed significant thickening (up to 20 mm) of left ventricular wall and delayed gadolinium enhancement at the apical myocardium. Genetic testing revealed that she has harbored compound heterozygous variants in exon 17 of the SGSH gene, namely c.545G>A (p.Arg182His) and c.703G>A (p.Asp235Asn). Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PM2_Supporting +PM3+PP1Strong+PP3+PP4; PS3+PM1+PM2_Supporting +PM3+PP3+PP4). Sanger sequencing confirmed that her mother was heterozygous for the c.545G>A (p.Arg182His) variant, whilst her father, sisters and her son were heterozygous for the c.703G>A (p.Asp235Asn) variant. Determination of blood leukocyte heparan-N-sulfatase activity suggested that the patient had a low level of 1.6 nmol/(g·h), whilst that of her father, elder and younger sisters and son were all in the normal range. CONCLUSION The compound heterozygous variants of the SGSH gene probably underlay the MPS ⅢA in this patient, for which hypertrophic cardiomyopathy is an associated phenotype.
Female ; Humans ; Cardiomyopathy, Hypertrophic ; Contrast Media ; East Asian People ; Gadolinium ; Mucopolysaccharidosis III ; Mutation ; Pedigree ; Male ; Middle Aged

Professor <i>SHAO Jingi>-<i>mingi>'s clinical experience of fire needling for bone-joint tuberculosis, tuberculous cervical lymphadenitis, ganglion cyst and thyrophyma is summarized. Professor <i>SHAOi> used fire needling to treat bone-joint tuberculosis. The acupoints included <i>ashii> points and nearby acupoints, particularly local opposite acupoints (Neixiyan [EX-LE 4] and Dubi [ST 35], Yinlingquan [SP 9] and Yanglingquan [GB 34], Xuehai [SP 10] and Liangqiu [ST 34]), and for the patients with severe <i>yini>-cold syndrome, <i>Yanghei> decoction was additionally used. For tuberculous cervical lymphadenitis, fire needling was used at different stages. In the early stage, the nucleus was punctured with fire needling; in the middle stage, the pustule was punctured with fire needling combined with cupping; in the late stage, the fire needling was inserted into the fistula or sinus tract, and the surrounding granulation tissue was treated with horizontal penetrating needling. For ganglion cyst, fire needling combined with centro-square needling was applied. For thyrophyma, the surrounding needling with filiform was used; for simple thyroid mass and thyroid nodule, the surrounding needling with fire needling was used.
Acupuncture Points ; Acupuncture Therapy ; Ganglion Cysts ; Humans ; Lymphadenitis ; Tuberculosis, Osteoarticular

OBJECTIVE: To explore the genetic etiology of a patient with mucopolysaccharidosis type II (MPSII). METHODS: The IDS gene of the proband and his mother was detected by Sanger sequencing, agarose gel electrophoresis, real-time PCR and multiple ligation-dependent probe amplification (MLPA). Prenatal diagnosis was performed on amniotic fluid sample. RESULTS: Agarose gel electrophoresis, real-time PCR, and MLPA all showed that exon 2 of IDS gene of the proband was deleted, for which his mother was normal. Prenatal diagnosis showed that the fetus was a normal male. CONCLUSION The de novo deletion of exon 2 of the IDS gene probably underlay the MPSII in this patient. Above finding has broadened the mutation spectrum of the IDS gene. The combined methods for the detection of IDS gene mutations could make accurate prenatal diagnosis for MPSII.
China ; Exons ; Female ; Humans ; Male ; Mucopolysaccharidosis II/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis/methods*

OBJECTIVE: To analyze the clinical and genetic characteristics of a child with mucopolysaccharidoses type I. METHODS: Enzymatic and genetic testing were carried out for the child who was admitted due to contraction of fingers and flexion deformity of lower limbs. The child was subjected to target exome capture sequencing. Candidate variants were verified by Sanger sequencing of the child, her parents and two sisters. RESULTS: The child had featured facial dysmorphism, short stature, round head, short neck, corneal turbidity and skeletal deformity. Enzyme test was positive, and genetic testing revealed that she had harbored c.1049delA (p.N350Mfs*4) and c.1815dupT (p.V606Cfs*53) compound heterozygous variants of the IDUA gene, which were inherited from her mother and father, respectively. Her two sisters had each carried one of above variants. c.1815dupT was known to be pathogenic, whilst c.1049delA was not reported in Human Gene Mutation Database. CONCLUSION The compound heterozygous variants of the IDUA gene probably underlay the disease in this child, among which the c.1049delA (p.N350Mfs*4) is unreported previously.
Child ; Dwarfism ; Female ; Genetic Testing ; Humans ; Iduronidase ; Mucopolysaccharidosis I ; Mutation ; Exome Sequencing

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

Consensus ; Humans ; Mucopolysaccharidosis II/therapy*