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Tuberous sclerosis with rhabdomyoma.

Ajay V, Singhal V, Venkateshwarlu V, Rajesh SM - Indian J Hum Genet (2013)

Bottom Line: Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system.We present a case of tuberous sclerosis with rhabdomyoma in the heart.This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore, India.

ABSTRACT
Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis.

No MeSH data available.


Related in: MedlinePlus

Hyperintense areas in subcortical location in Bilateral cerebral hemispheres: Tubers
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Figure 2: Hyperintense areas in subcortical location in Bilateral cerebral hemispheres: Tubers

Mentions: A 1½-year-old female child born out of a non-consanguineous marriage to a primi mother at 34 weeks of gestation, presented with abnormal jerky movements of both upper and lower limb for past 2 months. The development was normal for age, except for speech and language delay. Clinical and central nervous system examination was normal. During hospital stay child was found to have infantile spasms. Electroencephalography (EEG) carried out showed hypsarrhythmic pattern. Magnetic resonance imaging (MRI) brain was suggestive of multiple subependymal nodules and cortical tubers [Figures 1a and b]. Ultrasonogram abdomen was normal. Antenatal scan had revealed a mass in fetal heart in left ventricle. Echocardiography carried out at this admission was suggestive of rhabdomyoma in left ventricular cavity 21 mm × 15 mm size [Figure 2]. Ophthalmological examination was normal. On clinical examination of parents, mother had adenoma sebaceum on face and Shagreen patch in right lumbosacral region. Based on the criteria a diagnosis of TSC was made and child was started on topiramate. There was no further episode of infantile spasms. Now on follow-up the child is seizure free.


Tuberous sclerosis with rhabdomyoma.

Ajay V, Singhal V, Venkateshwarlu V, Rajesh SM - Indian J Hum Genet (2013)

Hyperintense areas in subcortical location in Bilateral cerebral hemispheres: Tubers
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3722639&req=5

Figure 2: Hyperintense areas in subcortical location in Bilateral cerebral hemispheres: Tubers
Mentions: A 1½-year-old female child born out of a non-consanguineous marriage to a primi mother at 34 weeks of gestation, presented with abnormal jerky movements of both upper and lower limb for past 2 months. The development was normal for age, except for speech and language delay. Clinical and central nervous system examination was normal. During hospital stay child was found to have infantile spasms. Electroencephalography (EEG) carried out showed hypsarrhythmic pattern. Magnetic resonance imaging (MRI) brain was suggestive of multiple subependymal nodules and cortical tubers [Figures 1a and b]. Ultrasonogram abdomen was normal. Antenatal scan had revealed a mass in fetal heart in left ventricle. Echocardiography carried out at this admission was suggestive of rhabdomyoma in left ventricular cavity 21 mm × 15 mm size [Figure 2]. Ophthalmological examination was normal. On clinical examination of parents, mother had adenoma sebaceum on face and Shagreen patch in right lumbosacral region. Based on the criteria a diagnosis of TSC was made and child was started on topiramate. There was no further episode of infantile spasms. Now on follow-up the child is seizure free.

Bottom Line: Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system.We present a case of tuberous sclerosis with rhabdomyoma in the heart.This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore, India.

ABSTRACT
Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis.

No MeSH data available.


Related in: MedlinePlus