Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment.

AIM: To investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time. METHODS: In this retrospective observational study, 52 individuals aged up to 18 years at the study start were followed-up at regional hospitals and centres for habilitation from 2000 to 2020. RESULTS: Cardiac rhabdomyoma was detected prenatally/neonatally in 69.2% of the subjects born during the latest ten years of the study period. Epilepsy was diagnosed in 82.7% of subjects, and 10 (19%) were treated with everolimus, mainly (80%) for a neurological indication. Renal cysts were detected in 53%, angiomyolipomas in 47%, astrocytic hamartomas in 28% of the individuals. There was a paucity of standardized follow-up of cardiac, renal, and ophthalmological manifestations and no structured transition to adult care. CONCLUSION: Our in-depth analysis shows a clear shift towards an earlier diagnosis of tuberous sclerosis complex in the latter part of the study period, where more than 60% of cases showed evidence of this condition already in utero due to the presence of a cardiac rhabdomyoma. This allows for preventive treatment of epilepsy with vigabatrin and early intervention with everolimus for potential mitigation of other symptoms of tuberous sclerosis complex.

Lactococcus garvieae endocarditis presenting with subdural haematoma.

BACKGROUND: Lactococcus garvieae is a rare cause of infective endocarditis (IE) in humans and the bacterium can easily be misidentified. Intracranial haemorrhage often occurs in conjunction with IE, but subdural haemorrhage (SDH) is very rarely encountered. CASE PRESENTATION: The patient was an 81-year-old male with a history of cardiovascular disease and a prosthetic biologic aortic valve. He presented with fatigue and an acute onset of headache. Computed tomography (CT) revealed a left-sided fronto-temporal subdural haematoma. Low-grade fever was noted and blood cultures yielded growth of L. garvieae. Transesophageal echocardiography (TEE) revealed small vegetations on the native mitral valve and on the prosthetic aortic valve. Treatment with penicillin and tobramycin was initiated and the recovery was slow but uneventful. CONCLUSION: This is the first report of a case where SDH was the sole presenting neurological sign of IE. The case demonstrates that IE should be considered in patients with SDH where a history of trauma is absent, especially if the patient has fever or predisposing conditions such as a prosthetic heart valve.

Mucinous cystadenocarcinoma of the pancreas - outcome following different modes of treatment.

BACKGROUND: Mucinous cystadenocarcinomas (MCAC) of the pancreas are rare tumors. When localized to the pancreas alone, surgical resection is mostly associated with a favorable prognosis. The potential value of palliative treatment with chemotherapy for irresectable disease is scarcely described though. The aim of this study was to describe a single-center series of patients with MCAC of the pancreas focusing on the outcome following different treatment strategies. METHODS: 15 patients, 10 females and 5 males, with histologically or cytologically verified MCAC, were divided into three groups: surgical resection (n=7), chemotherapy (n=5) and no treatment (n=3). RESULTS: There was no obvious difference in gender distribution between the subgroups. A tendency towards higher age was seen in the group without treatment, as was a larger tumor size as compared to the chemotherapy group. Patients were administered chemotherapy and the group without treatment seemed to present with the same prevalence of metastatic disease (3/5 and 2/3, respectively). All patients in the group without treatment died after in median 1 month following pathological diagnosis. One patient in the chemotherapy group was alive at 9-month follow up, and the others survived a median of 11 months. In the surgically treated group, 4/7 were alive at follow-up of a median of 154 months. Of the three deceased patients who had survived 44, 53 and 151 months, respectively, two had microscopically non-radical resection. CONCLUSIONS: MCAC of the pancreas is, when locally confined and without metastases, associated with fairly good prognosis after surgical resection. In inoperable patients and for metastatic disease, outcome is poor.