Early diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome) in the practice of a pediatrician

Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) is a lysosomal storage disease inherited in an autosomal recessive manner, it is characterized by the accumulation of heparan sulfate in the cells of the body, which leads to the development of multiple organ failure. It occurs with a frequency of 1: 70 thousand newborns. There are 4 subtypes of the disease: A, B, C, D. Cognitive and neurological disorders are the earliest symptoms of the disease. Delay (loss) of speech development, regression of acquired skills, hyperreactivity, autistic character traits, mental retardation, sleep disturbance, epilepsy are noted; aggressive behavior is formed, the ability to move is impaired, hepatomegaly appears. There are observed the violations of other organs and systems – the organ of vision, bone, respiratory, cardiovascular systems, ENT organs, dental problems. Clinically, the subtypes of mucopolysaccharidosis III are practically indistinguishable. The average age at diagnosis is 2–6 years. Diagnostic search includes qualitative and quantitative determination of glycosaminoglycans in urine. It should be remembered that with mild variants of the disease, these indicators may be within the normal range. In the future, it is necessary to assess the activity of the corresponding enzymes in leukocytes, plasma or serum, in skin fibroblasts. Genetic testing is then performed to identify the mutation of the corresponding defective gene. Differential diagnosis should be carried out with other types of mucopolysaccharidosis, mucolipidosis, gangliosidosis, multiple sulfatase deficiency, some rheumatoid diseases.

A clinical case of physical therapy of a child with multiple sulfatase deficiency

The article deals with the problems of physical therapy in children with multiple sulfatase deficiency (MSD). The purpose of the study presented in the article was to substantiate the need to form a structured, personalized comprehensive rehabilitation program for children with multiple sulfatase deficiency. The objectives of the study were to analyze the literature on the topic of the study, to study the clinical phenotype of multiple sulfatase deficiency and potential complications of this pathology, to justify the use of physical therapy in children with multiple sulfatase deficiency. Research methods: analysis of scientific and methodological sources of domestic and foreign authors, pedagogical observation, collection of anamnestic information of the patient. The publication discusses the clinical phenotype of genetic pathology and possible potential complications of this orphan disease, strategic vectors of an individual rehabilitation program. The description of a clinical case of late infantile form of the disease is presented. The effectiveness of a six-months’ implementation of the physical therapy program is being investigated. For rehabilitation examination of children with MSD, it is proposed to use testing of children with psychomotor disorders. The technique of massage, the appropriateness of verticalization and orthotics, sensory enrichment of the environment of a child with this genetic pathology are revealed. Exercises of therapeutic physical culture are proposed, they will help to maintain postural control, support ability and functioning of arms, legs, hand-eye coordination, and help prevent diseases of the bronchopulmonary system. It is noted that MSD has been insufficiently studied not only from the standpoint of a treatment strategy, diagnostic algorithms for clinical multisystem manifestations, but also requires attention to analyze the effectiveness and efficiency of the system of modern rehabilitation technologies for children with this diagnosis.

Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma

Multiple sulfatase deficiency (MSD) (MIM # 272200) is an extraordinarily rare inborn error of metabolism (IEM). The phenotypic spectrum is largely heterogeneous and attributed to the combined effects of deficiencies in the nine sulfatases currently known to be related to human diseases. Systemic sequelae of MSD are vast and multisystemic, primarily encompassing developmental delay and neurological, cardiopulmonary, dermatological, gastroenterological, and skeletal manifestations. The dental phenotype is scarcely described in the literature due to a paucity of cases. Dental treatment under local and general anaesthesia mandates an integrated multidisciplinary approach to safeguard systemic health and optimise outcomes. This paper presents two siblings with multiple sulfatase deficiency who presented to the Paediatric Dental Department at Great Ormond Street Hospital, requiring comprehensive care under general anaesthesia for dental caries and trauma.

Late infantile form of multiple sulfatase deficiency

Summary Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder (LSD) that results in the accumulation of sulfate esters which go on to cause neurological deterioration and mental delay, skin changes, and dysmorphism. The disease can be categorized into three subtypes based on the age of onset: neonatal, late infantile, or juvenile. Our patient is a 2.5-year-old girl, the only child of a healthy couple. Prior to the presentation of the disease, she had not been noted to have any previous health complications. The condition began at the age of 6 months with developmental regression and global hypotonia. Following thorough evaluation and testing, the patient was diagnosed with severe late infantile MSD, although some features, such as minimal mental deterioration, minimal dysmorphic facial features, and minimal organ enlargement, did not fully correlate with the diagnosis, since in cases of severe forms of the condition these features are almost always quite marked. The unexpected minimalism of some of the patient’s MSD signs in spite of the severity of her MSD condition made her case worth further studying. Learning points: Treating dermatologic signs and symptoms greatly eased our patient’s discomfort. We would suggest the use of appropriate supportive treatment for symptom management regardless of the life expectancy of the patient. As regards the diagnosis of MLD, given that in some cases the patient may present with irregular features of the condition, a genetic evaluation may be useful for accurate diagnosis. If motor function impairment is followed by dermatologic involvement, as seen in our patient and in many cases in the literature, MSD must be considered, and additional tests should be done to rule it out.