Nutritional, Gastrointestinal and Endo-Metabolic Traps in the Management of Children with Spinal Muscular Atrophy Type 1

Corsello, Antonio; Scatigno, Lorenzo; Pascuzzi, Martina Chiara; Calcaterra, Valeria; Dilillo, Dario; Vizzuso, Sara; Pelizzo, Glória; Zoia, Elena; Mandelli, Anna; Govoni, Annalisa; Bosetti, Alessandra; Francavilla, Ruggiero; Indrio, Flavia; Fabiano, Valentina; Zuccotti, Gian Vincenzo; Verduci, Elvira

doi:10.20944/preprints202106.0184.v1

Cited by 5 publications

(1 citation statement)

References 50 publications

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“…The interplay between CP and colonic volvulus introduces a unique set of considerations [8]. Neurological impairment, as seen in CP, can influence colonic motility, potentially predisposing patients to gastrointestinal complications [9]. In this case, the patient's history of CP, diagnosed at the age of 4 months post-infancy viral meningitis, becomes a crucial element in understanding the pathophysiological factors contributing to colonic volvulus.…”

Section: Discussionmentioning

confidence: 99%

A Case of Necrotic Colonic Volvulus in Cerebral Palsy With Severe Scoliosis

Alhelal,

Assiri,

Alqarni

et al. 2024

Cureus

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Cerebral palsy (CP) is a neurodevelopmental disorder that affects motor function and is often accompanied by secondary musculoskeletal issues. Severe scoliosis, a lateral curvature of the spine over 40 degrees, poses a significant challenge for individuals with CP, impacting their mobility and overall well-being. While the association between scoliosis and gastrointestinal complications is acknowledged, the occurrence of colonic volvulus with necrosis in the context of CP and severe scoliosis is rare and complex. This case report emphasizes the importance of clinical awareness in managing gastrointestinal complications in patients with CP and severe scoliosis. An 11-year-old female presented with gastroenteritis and a concurrent viral upper respiratory tract infection. She experienced complications such as greenish vomiting, hematemesis, abdominal distention, and constipation. The patient has a medical history of epilepsy and was diagnosed with quadriplegic CP at four months old due to viral meningitis. She is currently on anti-epileptic medications and receives regular follow-ups with neurology. Severe lumbar scoliosis of more than 50 degrees Cobb angle is also noted. Physical examination revealed dehydration, bilious content in nasogastric tube (NGT) aspiration, tender abdomen, and an empty digital rectal examination. Some laboratory findings showed elevated levels of erythrocyte sedimentation rate (ESR), prothrombin time (PT), blood urea nitrogen (BUN), and sodium, while albumin levels were decreased, and white blood cell (WBC) count was mildly elevated. Abdominal computed tomography (CT) with contrast showed a distended ascending colon with air and swirling of the mesentery. The distal half of the large bowel was not dilated, and fecal matter was present. The small bowel appeared to be collapsed, and there was moderate free fluid in the peritoneal cavity, indicating colonic volvulus involving the proximal large bowel. The patient underwent surgery, which involved deflating and removing the distended colon, resecting the gangrenous colon, and performing an ilio-sigmoid anastomosis to restore gastrointestinal continuity. Postoperatively, the patient received close monitoring in the pediatric intensive care unit (PICU), received total parenteral nutrition (TPN) for five days, gradually progressed feeding, and showed overall improvement in her condition. In conclusion, this case report highlights a rare occurrence of colonic volvulus in a patient with CP and severe scoliosis. It emphasizes the complex relationship between neurological and musculoskeletal disorders in gastrointestinal complications. A multidisciplinary approach is important for optimal management. It shows the importance of musculoskeletal factors in patients with neurological conditions. Overall, it contributes to the medical literature and emphasizes tailored management strategies for gastrointestinal issues in such patients.

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Section: Discussionmentioning

confidence: 99%

A Case of Necrotic Colonic Volvulus in Cerebral Palsy With Severe Scoliosis

Alhelal,

Assiri,

Alqarni

et al. 2024

Cureus

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Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular Atrophy

López‐Cortés

Echeverría‐Garcés²,

Ramos-Medina³

2022

Biology

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The condition known as 5q spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the SMN1 and SMN2 genes. It is one of the most common pediatric recessive genetic diseases, and it represents the most common cause of hereditary infant mortality. After decades of intensive basic and clinical research efforts, and improvements in the standard of care, successful therapeutic milestones have been developed, delaying the progression of 5q SMA and increasing patient survival. At the same time, promising data from early-stage clinical trials have indicated that additional therapeutic options are likely to emerge in the near future. Here, we provide updated information on the molecular underpinnings of SMA; we also provide an overview of the rapidly evolving therapeutic landscape for SMA, including SMN-targeted therapies, SMN-independent therapies, and combinational therapies that are likely to be key for the development of treatments that are effective across a patient’s lifespan.

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Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening

Lietsch,

Chan,

Taylor

et al. 2024

IJNS

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In the United States and around the world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis and treatment. The number of screened conditions continues to expand as novel technologies for screening, diagnosing, treating, and managing disease are discovered. While screening all newborns facilitates early diagnosis and treatment, most screened conditions are treatable but not curable. Patients identified by newborn screening often require lifelong medical management and community support to achieve the best possible outcome. To advance the long-term follow-up of infants identified through newborn screening (NBS), the Long-Term Follow-up Cares and Check Initiative (LTFU-Cares and Check) designed, implemented, and evaluated a system of longitudinal data collection and annual reporting engaging parents, clinical providers, and state NBS programs. The LTFU-Cares and Check focused on newborns identified with spinal muscular atrophy (SMA) through NBS and the longitudinal health information prioritized by parents and families. Pediatric neurologists who care for newborns with SMA entered annual data, and data tracking and visualization tools were delivered to state NBS programs with a participating clinical center. In this publication, we report on the development, use of, and preliminary results from the LTFU-Cares and Check Initiative, which was designed as a comprehensive model of LTFU. We also propose next steps for achieving the goal of a national system of LTFU for individuals with identified conditions by meaningfully engaging public health agencies, clinicians, parents, families, and communities.

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Nutritional, Gastrointestinal and Endo-Metabolic Traps in the Management of Children with Spinal Muscular Atrophy Type 1

Cited by 5 publications

References 50 publications

A Case of Necrotic Colonic Volvulus in Cerebral Palsy With Severe Scoliosis

A Case of Necrotic Colonic Volvulus in Cerebral Palsy With Severe Scoliosis

Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular Atrophy

Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening

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