Journal of Neonatal Biology

Surgical Interventions for Skeletal Abnormalities in Newborns by Mucopolysaccharidoses

Shunji Tomatsu^* Department of Pediatrics, Gaslini Institute, Genoa, Italy
^*Correspondence: Shunji Tomatsu, Department of Pediatrics, Gaslini Institute, Genoa, Italy, Email:

Received: 15-Aug-2023, Manuscript No. JNB-23-23264; Editor assigned: 18-Aug-2023, Pre QC No. JNB-23-23264 (PQ); Reviewed: 01-Sep-2023, QC No. JNB-23-23264; Revised: 07-Sep-2023, Manuscript No. JNB-23-23264 (R); Published: 14-Sep-2023, DOI: 10.35248/2167-0897.23.12.431

Description

Some times newborns have to face some unexpected challenges. One such challenge is the diagnosis of Mucopolysaccharidoses (MPS) in a newborn. This rare genetic disorder can have profound effects on a child's health and development.

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders characterized by the accumulation of complex sugar molecules called mucopolysaccharides within the body's cells. These molecules are essential for various bodily functions, and their abnormal buildup can lead to a wide range of health issues.

MPS is a rare genetic disorder, with several subtypes identified based on the specific enzyme deficiency responsible for the condition. Each subtype of MPS has distinct clinical features and varying degrees of severity. While there are several subtypes of MPS, some of the most common ones include MPS I, MPS II, MPS III, MPS IV, MPS VI, and MPS VII.

Mucopolysaccharidoses are caused by genetic mutations that result in a deficiency or absence of specific enzymes responsible for breaking down mucopolysaccharides. Without these enzymes, the mucopolysaccharides accumulate within the cells and tissues of the body, leading to the characteristic symptoms of the disorder. MPS is typically inherited in an autosomal recessive manner, meaning that both parents must carry a defective gene to pass the condition on to their child. When both parents are carriers, there is a 25% chance that their child will inherit two defective genes, leading to the development of MPS.

The symptoms of MPS can vary widely depending on the specific subtype and the degree of enzyme deficiency. However, there are some common symptoms and clinical features that may be observed in newborns with MPS. Many newborns with MPS exhibit distinct facial features, including a prominent forehead, coarse facial features, and a flattened nasal bridge. Skeletal issues such as joint stiffness, restricted joint movement, and bone deformities may be evident. Enlargement of the liver and spleen, known as hepatosplenomegaly, can occur. Some MPS subtypes are associated with heart valve abnormalities and other cardiovascular issues. Newborns with MPS may experience respiratory difficulties due to enlarged tonsils and adenoids, as well as changes in the structure of the airways. Cognitive and motor development may be delayed in children with MPS.

Inguinal or umbilical hernias are common in newborns with MPS. Sensorineural hearing loss is a common feature of many MPS subtypes. Clouding of the corneas can lead to vision problems. Some newborns with MPS may experience gastrointestinal problems, including chronic diarrhea and difficulty swallowing. Early diagnosis of MPS is important because early intervention can significantly improve a child's quality of life and prognosis. Diagnostic tests for MPS may include blood and urine tests to assess enzyme levels and genetic testing to confirm the specific subtype of MPS.

Once a diagnosis is confirmed, a multidisciplinary approach to care is essential. ERT is available for some MPS subtypes and involves regular infusions of the missing enzyme. Physical therapy can help manage joint stiffness and improve mobility. In some cases, surgical procedures may be necessary to address skeletal abnormalities or other issues. Managing symptoms and providing supportive care, such as hearing aids or vision correction, is an essential aspect of MPS management. Some research studies and clinical trials may offer promising treatments for MPS, and families may choose to participate in these trials.

Receiving a diagnosis of MPS for a newborn can be emotionally challenging for families. It is essential for healthcare providers to offer comprehensive support, including genetic counseling, to help families understand the condition, its implications, and the available treatment options. Support groups and organizations dedicated to MPS can also provide valuable resources and a sense of community for affected families.

Mucopolysaccharidoses are a group of rare genetic disorders that can profoundly affect newborns and their families. While the condition is complex and challenging, early diagnosis and intervention can make a significant difference in a child's life. With ongoing research and advancements in treatment, there is hope for improved outcomes for newborns with MPS.