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Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder with a progressive decline in cognitive, motor, and psychological function. Chorea tends to be the most common associated movement disorder, although other variants of several abnormal movements are also seen. Adult-onset HD is the most common subtype. Juvenile Huntington's disease (JHD) accounts for 5%–10% of all HD cases and presents as a rapidly progressive disorder with a multitude of characteristics. We report on a 9-year-old male with JHD who presented with refractory epilepsy. His EEG findings, seizure type, and antiepileptic drug usage are discussed with a brief review of the currently available relevant literature. The currently reported case sheds light on antiepileptic drugs that proved effective in our patient and the importance of screening for JHD when a child presents with seizures that are difficult to control.

Familial hemophagocytic lymphohistiocytosis (FHLH) is a fulminant rapidly progressive disorder characterized by uncontrolled immune system activation. Over the last decade, STXBP2 mutations have been reported as causative. We report a baby with typical clinical features and supportive laboratory findings, who had a homozygous missense variation in exon 19 of STXBP2 that results in an amino acid substitution of aspartic acid for glycine. Adding to the currently scant literature on this variation may contribute to the database pool and help to confirm assertion of pathogenicity in FHLH.

Pulmonary arterial hypertension (PAH) is a rapidly progressive disorder with high mortality rates despite traditional medical treatment. With the availability of PA targeted therapy, early PAH detection improves treatment outcomes. Exercise- induced Pulmonary Artery Hypertension (EiPAH) represents

Auer rods were first recognized at the beginning of this century. Their presence soon became considered to be an unequivocal manifestation of a leukemic process. Possibly influenced by this long-held assumption, in 1982 the French-American-British co-operative group (FAB) incorporated the presence of Auer rods into a classification system of the myelodysplastic syndromes that remains in widespread clinical usage today. Although unsubstantiated at the time, the presence of Auer rods was suggested to indicate a rapidly progressive disorder and a poor prognosis. In the absence of studies confirming the utility of Auer rods as a diagnostic criterion, the FAB classification system of myelodysplastic syndromes has been widely used to allocate therapy. In this review we examine the early descriptions of Auer rods and critically evaluate the studies examining the value their presence has in the classification and prognosis of patients with myelodysplastic syndromes.

Histiocytic medullary reticulosis (HMR) has been regarded as a rapidly progressive disorder with death commonly occurring within 6 months of onset. A case with the typical features of this disease is described in which a complete remission followed combination chemotherapy.