Tuberous sclerosis in a 16 years old female: A case report

Ashfaq, Fatima; Karki, Saurab; Ishfaq, Hajra; Shahi, Sunil; Khadka, Manoj

doi:10.1016/j.amsu.2022.103331

Cited by 3 publications

(1 citation statement)

References 8 publications

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“…We discovered that our patient had a de novo mutation due to the absence of a mutation in her parents from the Sanger sequencing results. Still, most cases show no evidence of family history, and two third of cases involve de novo germline alterations 14 – 16 . This is similar to our patient’s mutation and a previous case of TSC2 mutation.…”

Section: Discussionmentioning

confidence: 99%

De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report

Triono

Herini

Iskandar

et al. 2023

Annals of Medicine &Amp; Surgery

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Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous disease caused by a mutation in the TSC1 or TSC2 gene. There are several neuropsychiatric manifestations associated with TSC known as TSC-associated neuropsychiatric disorder (TAND). This article concerns neuropsychiatric manifestations in children with the TSC2 gene mutation, with genetic analysis findings using whole-exome sequencing. Case: A 17-year-old girl presented with TSC, absence and focal epilepsy, borderline intellectual functioning, organic psychosis, and renal angiomyolipoma. She was emotionally unstable and preoccupied with irrelevant fears. In the physical examination, we found multiple hypomelanotic maculae, angiofibroma, and a shagreen patch. The intellectual assessment result with the Wechsler Adult Intelligence Scale at 17 was borderline intellectual functioning. Brain MRI showed cortical and subcortical tubers in the parietal and occipital lobes. Whole-exome sequencing was conducted, and the result was a missense mutation in exon 39 of the TSC2 gene [NM_000548.5:c.5024C>T (NP_000539.2:p.Pro1675Leu)]. The Sanger sequencing of the patient’s parents revealed no mutations in the TSC2 gene, confirming the patient’s de novo mutation. The patient was given several antiepileptic and antipsychotic drugs. Clinical discussion: Neuropsychiatric manifestation is a common phenotype in the TSC variant, and psychosis is one of the rare TAND symptoms in children. Conclusions: The neuropsychiatric phenotype and genotype in TSC patients are rarely reported and evaluated. We reported a female child with epilepsy, borderline intellectual functioning, and organic psychosis associated with a de novo mutation of the TSC2 gene. Organic psychosis is a rare symptom of TAND which also manifested in our patient.

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Section: Discussionmentioning

confidence: 99%

De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report

Triono

Herini

Iskandar

et al. 2023

Annals of Medicine &Amp; Surgery

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Anesthetic management of a parturient with tuberous sclerosis for emergency cesarean section- a case report

Yadav

Kumar

Arora

et al. 2023

Ain-Shams J Anesthesiol

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Background Tuberous sclerosis is an autosomal dominant neurocutaneous disorder characterized by hamartoma formation in various organ systems leading to highly variable clinical presentation. These patients pose a challenge to anesthesiologists due to multisystem involvement. Case presentation Herein, we report the successful anesthetic management of a 25-year-old parturient with tuberous sclerosis who underwent an emergency cesarean section in view of cephalopelvic disproportion. She had a seizure disorder, bilateral renal angiomyolipomas, angiofibroma over the cheeks, periungual fibroma on the right toe, and nodular lesions near the base of the tongue and oropharynx. We opted for regional anesthesia to avoid airway instrumentation, drug interaction, and renal insult. Conclusions Anesthetic management of tuberous sclerosis depends upon the extent and severity of the involvement of various organs. Careful assessment, thorough evaluation, and preoperative planning are crucial for dealing with the difficulties and complications encountered during the management of these cases.

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Esclerosis tuberosa

Sanchez,

Salas Contreras,

Carchi Flores

2024

rgn

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La esclerosis tuberosa, también conocida como síndrome tuberculoso (CET), es una enfermedad genética rara con una incidencia global de 6,4 a 12,4 casos por cada 100.000 habitantes. El pronóstico de los individuos con CET viene determinado por la gravedad de sus síntomas. Los síntomas menos graves conducen a una vida más larga y productiva, mientras que los más graves pueden causar discapacidades graves. Actualmente no existe cura para la CET. Este texto presenta un estudio de caso clínico sobre CET, detallando su definición, tratamiento, factores de riesgo y hallazgos. A un paciente de 17 años se le diagnosticaron desde los tres años diversos síntomas, entre ellos fibromas de Koenen, fibromas gingivales, quistes hepatocelulares, angiomimpomas renales, gliosis cerebral y magna megacisterna. A pesar de cumplir los criterios diagnósticos, no se han realizado estudios genéticos debido a limitaciones financieras. Los expertos en la materia deben tener amplios conocimientos de la gran variedad de síntomas de los pacientes con CET. La vigilancia y la intervención rápida desempeñan un papel crucial en la promoción de un pronóstico más favorable y la prevención de complicaciones. La vigilancia permanente de los profesionales sanitarios es esencial para un diagnóstico preciso y un tratamiento oportuno.

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Tuberous sclerosis in a 16 years old female: A case report

Cited by 3 publications

References 8 publications

De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report

De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report

Anesthetic management of a parturient with tuberous sclerosis for emergency cesarean section- a case report

Esclerosis tuberosa

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