TTCT 1471 mutation in lysnuric protein intolerance: Clinical features of a Tunisian paediatric series.

INTRODUCTION: Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease. It is caused by a deficiency in cationic amino acid transport caused by mutations in SLC7A7 gene. AIM: To identify the clinical, diagnostic and therapeutic features of lysnuric protein intolerance. METHODS: This was a retrospective study conducted in the pediatric department of La Rabta Hospital over a period of 30 years (1992 to 2022). We included patients with clinical signs suggestive of lysinuric protein intolerance and orotic acid in the urine. RESULTS: We enrolled seven patients. The median age at disease onset was nine months. The median age at positive diagnosis was 21 months. Growth retardation, hepatosplenomegaly and haematological abnormalities were the main features of the disease. Hyperammonia and increased urinary orotic acid were present in all patients. Molecular biology revealed the del TTCT 1471 mutation in five patients. All patients were prescribed a low protein diet and citrulline supplementation. Complications of the disease were growth retardation (n=7), psychomotor or intellectual retardation (n=5), haemophagocytic lymphohistiocytosis (n=4) and osteoporosis (n=3). After a median follow-up of 11 years, six of our patients are still alive. One patient died from acute hyperammonemic encephalopathy. CONCLUSION: In this paediatric series, delays in diagnosis and treatment of LPI were responsible for long-term sequelae, particularly bone and neurological. The delTTCT1471 mutation appears to be the mutation of paediatric-onset forms in Tunisia. This mutation was not associated with pulmonary involvement, which is a prognostic factor and the main cause of death.

Impact of Music Therapy on Quality of Life in Children with Cancer.

BACKGROUND: Music therapy (MT) is a non-pharmacological treatment increasingly used to reduce stress and anxiety in hospitalized children affected by cancers. The aim of this study was to evaluate the impact of MT on quality of life in children with cancer and determine its effect on cardiorespiratory rates. METHODS: We conducted a quasi-experimental study between 1 April and 31 August 2021 at Bechir Hamza children's Hospital in Tunis, including children treated for cancer. The child or parent completed the PedsQL Module Cancer French version 3.0 questionnaires before and after four weekly music therapy sessions. The child's respiratory and heart rates were measured before and after each session. RESULTS: We included 20 children whose mean age was 7 ± 4.5 years. The median value of the total questionnaire score increased from 57 [46; 70] to 72 [67; 85] (p < 10-3) noting a significant reduction in pain (p = 0.02), nausea (p = 0.009), and anxiety related to medical procedures (p = 0.009) and worry about the future (p = 0.005). We highlighted a significant decrease in respiratory and heart rate after MT (p < 0.05). CONCLUSIONS: MT has positive impact on quality of life in children with cancer and reduces stress by lowering their cardiorespiratory rates.

[Chemotherapy-induced febrile neutropenia in a Tunisian Department of Pediatric Oncology]. / Neutropénie fébrile chimio-induite dans une unité d'oncologie pédiatrique tunisienne.

Chemotherapy-induced neutropenia (FN) is the most common infectious complication in pediatric oncology. To our knowledge, no pediatric research has been published in Tunisia. The purpose of our study was to describe the features of FN among Tunisian children and to investigate factors correlated with FN. We conducted a prospective study of children with chemotherapy-induced FN at the Department of Pediatric Medicine A of the Tunis Children´s Hospital from July 2019 to December 2019. We recorded 50 episodes of FN in 32 patients whose mean age was 5.3 years (3 months-16 years). We included 26 patients with solid tumors (81%) and six patients with hemopathies (18.7%). The mean time between last treatment and fever onset was 10.67 days. Bacteriological investigation was contributory in 18% of cases and mainly showed gram positive cocci. Therapeutic protocol including 1st line empirical antibiotic therapy (3rd generation cephalosporin with aminoglycoside) was effective in 62% of cases. Mortality rate of patients with FN was 2%. The statistical study did not reveal any factor of correlation with late-onset neutropenia. In conclusion, our results are consistent with literature data on bacteriological documentation and mortality. Our 1st line treatment option based on 3rd generation cephalosporin associated with aminoglycoside was effective in 2/3 of the cases. In the future, oral antibiotics may be considered in patients at low risk for infection.

Pediatric Noncerebral Thromboembolism: Etiological Assessment and Outcome.

OBJECTIVE: To report clinical presentation and etiologic investigation findings during pediatric noncerebral thromboembolism. METHODS: Retrospective study of cases of vascular non cerebral thromboses admitted in Medicine infantile A Department of the Children's Hospital of Tunis over 08 years. RESULTS: We confirmed 14 cases of non cerebral vascular thromboses. So that these accidents constitute 0,26 ‰ of the overall etiologies of hospitalizations in the Department. The mean age of our patients was 56±41 months [25 days-12 1/2 years]. The sex ratio was 1.8. The vascular incident was venous in 2/3 of cases. The clinical presentation was mainly painful swelling in four cases, abrupt dyspnea and hematemesis in three cases each and the incident was locally asymptomatic in four cases. Thromboses locations included deep vein thrombosis of limbs (n=6), vena cava thrombosis (n=1), portal thrombosis (n=4) and pulmonary embolism (n=3). The promoting factors identified were: tumors in seven cases, thrombophilias and catheterization in four cases each, trauma, surgery and Behçet disease in one case each. Eleven patients received anticoagulant treatment including unfractioned heparin in three cases and low molecular weight heparin in the other cases. No one died while four patients developed sequelae. CONCLUSION: Vascular thromboses are rare in children. They are mostly venous and diagnosed in ill children especially those having central venous catheters. Outcome of pediatric thromboembolism depends on efficient anticoagulation therapy which is well tolerated by children.