Tuberous Sclerosis Presenting as Diaphragmatic Hernia in a Newborn

Cardiac rhabdomyoma is a benign tumor which constitutes the most common cardiovascular feature of the tuberous sclerosis complex, a multisystem genetically determined neurocutaneous disorder. Cardiac rhabdomyomas can be detected in the prenatal ultrasound, are usually asymptomatic and spontaneously regress within the first three years of life. Less often, the tumors’ size, number, and location can produce a mass effect that may lead to blood flow abnormalities or organ dysfunction (heart failure and arrhythmia). In this setting, severe morbidity, and eventually, a lethal outcome despite clinical and surgical treatment may ensue. We describe a fatal case of multiple cardiac rhabdomyomas in a newborn girl. One of the rhabdomyomas was large and unfavorably located, causing significant obstruction of the left ventricular outflow tract. The autopsy identified, in addition to cardiac rhabdomyomas, brain glioneuronal hamartomas (cortical tubers), subependymal nodules and subependymal giant cell tumors, characteristic of the tuberous sclerosis complex. The newborn’s family was investigated for the presence of typical clinical symptoms of the complex and image findings showed significant phenotypical variations and a broad symptom spectrum among the family members. This interesting case underscores the variability of tuberous sclerosis complex and the importance of performing a comprehensive postmortem examination in the identification of the cause of death, especially in the setting of familial disease.

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“…We reviewed the current literature, which found 31 case reports of cardiac rhabdomyoma and TSC in PubMed (Table 18 - 36).…”

Section: Discussionmentioning

confidence: 99%

Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

et al. 2019

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“…In the literature, there was only one case of TSC in a neonate presented as diaphragmatic hernia [12] and we can also find mention about two other cases. One it was a 7.5-year-old girl [13], who presented with a diaphragmatic hernia, multiple cardiac rhabdomyomas and a horseshoe kidney with mutation in the TSC2 gene.…”

Section: Discussionmentioning

confidence: 88%

“…The second case of TSC connected with CDH was a preterm neonate, in whom diaphragmatic hernia was found during autopsy, in addition to cardiac rhabdomyomas and intestine malrotation. Ohri et al who described case of tuberous sclerosis in a newborn who had also multiple rhabdomyomas of heart and diaphragmatic hernia, associate the presence of this congenital malformations with multi-germ layer dysplasia [12]. Defects in morphogenesis associated with CDH are heterogeneous, and seemingly related to numerous pathogenetic mechanisms.…”

Section: Discussionmentioning

confidence: 99%

Late-presenting congenital diaphragmatic hernia in an infant with tuberous sclerosis – case report and a review of the literature

Komarowska¹,

Matuszczak²,

Baran³

et al. 2020

polp

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Tuberous sclerosis complex (TSC) is a rare, genetic syndrome, which is characterized by the occurrence of small, benign multilocalised hamartomas. The clinical manifestation of the disease is variable, from mild to life threating. This report presents a 9-month-old male baby suffering from TSC, which was diagnosed prenatally. The child was under constant medical, multidisciplinary monitoring. This boy presented skin lesions, hamartomas in the brain and heart, and observation toward hamartoma of the right retina. The infant was admitted to the hospital because of vomiting, fever and cough. Chest X-ray showed left diaphragmatic hernia with mediastinum shift. He underwent thoracoscopic hernia repair. The postoperative period was complicated by a left pneumothorax, atelectasis and pneumonia, but finally the child recovered and remains under ambulatory monitoring. Every pathological symptom must be imaged and diagnosed, despite good general condition.

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“…In addition to multiple cardiac rhabdomyomas and a horseshoe kidney, patient 1 also had a diaphragmatic hernia. Ohri et al [1980] described a patient with TSC who presented with intracardiac rhabdomyomas and diaphragmatic hernia as well as a malrotation of the intestine. Furthermore, an autopsy case of a preterm newborn with cardiac rhabdomyomas, malrotation of the intestine, and a diaphragmatic hernia has been reported [Oike et al, 1999].…”

Section: Discussionmentioning

confidence: 99%

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex

Niemi

Hudgins

Bernstein

2011

American J of Med Genetics Pt A

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Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by abnormalities involving the skin, brain, kidney (angiomyolipomas, cysts), and heart. Horseshoe kidney has not been considered to be a common renal manifestation of TSC but it has been previously reported in two patients with TSC. We report on two unrelated females with typical manifestations of TSC, horseshoe kidney, and an identical variant c.5138G>A in exon 39 (p.Arg1713His) of TSC2 gene. These cases provide evidence that horseshoe kidney is associated with TSC and add to the evidence for the pathogenicity of this variant. Furthermore, one of the patients also had a diaphragmatic hernia which has been reported twice in the medical literature in individuals with TSC. It is possible that a diaphragmatic hernia is another rare manifestation of TSC and that TSC should be included in the differential diagnosis of infants with a diaphragmatic hernia. Given that both a horseshoe kidney and a diaphragmatic hernia are findings that can be detected prenatally on an ultrasound examination, our findings may have implications for prenatal genetic counseling.

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Tuberous Sclerosis Presenting as Diaphragmatic Hernia in a Newborn

Cited by 10 publications

References 4 publications

Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

Late-presenting congenital diaphragmatic hernia in an infant with tuberous sclerosis – case report and a review of the literature

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex

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