This is the case of a pediatric patient presenting in acute liver failure (ALF) likely related to topiramate toxicity. The unique presentation of fulminant liver failure and severe hyperammonemia while on long term topiramate therapy not combined with valproate, demonstrates the need for more awareness of this adverse event.
Patients with a known genetic cause of aortic root dilation usually have a single underlying aetiology, either a single gene defect as in Marfan syndrome or chromosomal anomaly as in Turner syndrome. However, it is possible, although unlikely, for a patient to inherit multiple independent risk factors for aortic root dilation. We describe such a patient, who inherited Marfan syndrome and a very unusual form of mosaic Turner syndrome. Long-term follow-up of this patient may provide insight into the natural history of this unique genetic combination.
The diagnosis of ocular toxoplasmosis at our clinic declined, with Hispanics accounting for an increasing proportion of cases. These trends are consistent with the decreasing toxoplasmosis seropositivity in the United States, but may also reflect decreased referrals due to improved management of ocular toxoplasmosis in primary clinics.
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