informer

Schizencephaly is a rare disorder of cerebral cortical development with a frequency of 1.54 / 100,000. It is caused by defective migration of neurons with the subsequent formation of fissures extending from the pia mater of the cerebral wall to the underlying ventricular surface. It is often associated with other brain abnormalities such as polymicrogyria, pachygyria, ventriculomegaly, heterotopia of the gray matter, agenesis of the septum pellucidum, agenesis of the corpus callosum and others. It is most often accompanied by mental retardation, learning difficulties and epileptic seizures.An atypical case of late epileptic onset in a 21-year-old man with normal neuropsychiatric development due to schizencephaly and agenesis of the septum pellucidum is presented.

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Porphyria cutanea tarda is a rare disease, resulting from low activity of the enzyme uroporphyrinogen decarboxylase. It takes part in the stepwise process of haem of hemoglobin synthesis. The result is overproduction of porphyrins and their precursors that accumulate in the blood, skin and the liver. Potential trigger factors are chronic hepatitis C, HIV infection, alcohol, estrogen-containing drugs and smoking.

We present a clinical case of a 63-year-old male with chronic viral C hepatitis, liver cirrhosis and porphyria cutanea tarda. The clinical presentation included painful, blistering lesions on the sun exposed skin areas. A three-month course with direct acting antivirals was performed which sustained virological response, negative HCV RNA, full remission of the skin disease with no side effects.

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Juvenile Paget disease (JPD) is an ultra-rare disease, characterized by loss of function of osteoprotegerin. Osteoprotegerin inhibits osteoclast activation via the receptor activator of nuclear factor κB (RANK) pathway. Severely affected children suffer from bone deformities and pain and require long term anti-resorptive treatment. Due to the rarity of the disease, few long-term follow-up data on the clinical course in children are available. In this report, motor development during infancy and early childhood and the activity of the bone disease based on clinical, radiographic and biochemical parameters are reported in 2 children with severe forms of JPD during long term treatment (4 and 14 years) with bisphosphonates. Results of a bone biopsy in patient 1 after 10 years of treatment and video material of the motor development of patient 2 are provided. Doses per year of pamidronate ranged from 4 to 9 mg/kg bodyweight and were administered in 4-10 courses, yearly. Treatment was adjusted individually according to the presence of bone pain. Motor development was delayed in both children before treatment with bisphosphonates was commenced and improved thereafter. Bone histology revealed a significantly higher heterogeneity of mineralization which was mainly attributed to the increased percentage of low mineralized bone areas. Individualized intravenous treatment with pamidronate resulted in sufficient control of bone pain and suppression of bone turnover with few side effects over the observation period.

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