Adenoma sebaceum with psychosis in a Bantu woman

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AYE AYE Yl

Tuberous sclerosis is a disease with a well known association with renal masses, both cysts and angiomyolipomas. Reported here is a case of a 26 year old woman who had, in addition to angiomyolipomas of the kidneys, adenoma sebaceum, paraungualfibromas, shagreen patches and cerebral tubers

The Clinical and Paraclinical Manifestations of Tuberous Sclerosis in an Omani Female Patient

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Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis complex. Case presentation: We describe the clinical characteristics of patients from a Chinese family with tuberous sclerosis complex and analyze the functional consequences of their causal genetic mutations. A novel heterozygous mutation (c.3610G > A) at the last nucleotide of exon 29 in TSC2 was identified. On the protein level, this variant was presumed to be a missense mutation (p.Gly1204Arg). However, the splicing assay revealed that this mutation also leads to the whole TSC2 exon 29 skipping, besides the wild-type transcript. The mutated transcript results in an in-frame deletion of 71 amino acids (p.Gly1133_Thr1203del) and its ratio with the normal splice product is of about 44:56. Conclusions: The novel c.3610G > A TSC2 mutation was identified in association with tuberous sclerosis complex. And it was proven to code both for a missense-carrying transcript (56%), and for an isoform lacking exon 29 (44%)

Tuberous sclerosis: case record and discussion

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Case report on tuberous sclerosis: a rare cause of seizure

We report a case of tuberous sclerosis in a 19 years old teenage patient with generalized tonic-clonic seizure. MRI brain showed linear CSF filled structure with surrounding gliosis extending from the frontal horn of right lateral ventricle to the pial surface of right frontal lobe-postoperative change. Multiple small T2/ FLAIR hyper-intensities without diffusion restriction in bilateral frontal temporal parietal and left occipital lobes, predominantly involving the cortex and sub-cortical white matter and small focus of calcification in left parietal peri-ventricular white matter. He was treated with valproic acid, sodium valproate and levetiracetam and showed prompt improvement. Epilepsy in tuberous sclerosis complex is a group of genetic disorders manifesting in childhood. Secondary causes of tuberous sclerosis should be suspected when there is abrupt onset in adulthood. The case highlights an uncommon case of epilepsy in tuberous sclerosis in young adult patient

Diverse presentation of connective tissue disorders in pregnancy

Connective tissue disorders (CTD) include a variety of chronic multisystem disorders including autoimmune conditions. Many of these conditions affect women of childbearing age and therefore pregnancy poses an important challenge for the caregivers. The precise knowledge of therapeutic safety and the effect of disease on pregnancy and vice versa are important to achieve best outcome. Hence, it is imperative to have a vast knowledge of disease with proper preconception counselling. We report series of cases of connective tissue disorders in pregnancy: tuberous sclerosis (TS), systemic lupus erythmatosis (SLE) and neurofibromatosis (NF) type 1. The first case with tuberous sclerosis was associated with obstetric complications. In both cases of SLE, we observed preterm delivery and IUGR. However, the course of SLE remained the same in both the cases. The case with NF 1 taught us that a normal obstetric outcome could be expected in pregnant women

Tuberous sclerosis with visceral leishmaniasis: a case report

<p>Abstract</p> <p>Introduction</p> <p>Visceral leishmaniasis, a tropical infectious disease, is a major public health problem in India. Tuberous sclerosis, a congenital neuro-ectodermosis, is an uncommon disease which requires life long treatment.</p> <p>Case presentation</p> <p>A 15-year-old Indian patient, presented to the outpatient department of our institute with a high-grade fever for two months, splenomegaly and a history of generalized tonic-clonic convulsions since childhood. The clinical and laboratory findings suggested visceral leishmaniasis with tuberous sclerosis. The patient was treated with miltefosine and antiepileptics.</p> <p>Conclusion</p> <p>The patient responded well and in a follow up six months after presentation, she was found free of visceral leishmaniasis and seizures. Diagnosis and treatment of this rare combination of diseases is difficult.</p