Intracranial Pressure IV

Desmin-related myopathy (OMIM 601419) is a familial disorder characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias and restrictive heart failure, and by intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells1,2,3,4. The underlying molecular mechanisms are unknown. Involvement of the desmin gene (DES) has been excluded in three families diagnosed with desmin-related myopathy5. We report two new families with desmin-related cardioskeletal myopathy associated with mutations in the highly conserved carboxy-terminal end of the desmin rod domain. A heterozygous A337P mutation was identified in a family with an adult-onset skeletal myopathy and mild cardiac involvement. Compound heterozygosity for two other mutations, A360P and N393I, was detected in a second family characterized by childhood-onset aggressive course of cardiac and skeletal myopathy.

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Life-threatening opportunistic cytomegalovirus infection is a complication of the acquired immunodeficiency syndrome (AIDS) that occurs in 7.4% or more of patients with AIDS. Cytomegalovir...

Serious Cytomegalovirus Disease in the Acquired Immunodeficiency Syndrome (AIDS)

Two case studies are presented to demonstrate that children who experience trauma-related nightmares may benefit from cognitive-behavioral therapy for this sleep problem. The treatment was adapted from the empirically supported adult treatment for chronic trauma-related night- mares: exposure, relaxation, and rescripting therapy (ERRT). Pretreatment and posttreatment nightmare frequency and severity were measured in addition to subjective nightmare-related distress, behavioral problems, sleep quality and quantity, and symptoms of posttraumatic stress disorder (PTSD), anxiety, and depression. Improvement in nightmare and sleep disturbance fre- quencies were found as well as reductions in parents' reports of child behavior problems. This study provides preliminary support for the use of ERRT with children.

A Case Series: Cognitive- Behavioral Treatment (Exposure, Relaxation, and Rescripting Therapy) of Trauma-Related Nightmares Experienced by Children

Life-threatening opportunistic cytomegalovirus infection is a complication of the acquired immunodeficiency syndrome (AIDS) that occurs in 7.4% or more of patients with AIDS. Cytomegalovirus retinitis, colitis, esophagitis, and gastritis are the commonest manifestations of severe cytomegalovirus end-organ disease. Extensive trials with intravenous ganciclovir, a nucleoside analogue with myelosuppressive toxicity, have shown that ganciclovir halts the progression of cytomegalovirus retinitis and gastrointestinal disease. Since relapse is common when therapy is discontinued, most patients with AIDS need life-long maintenance therapy. The clinical response to ganciclovir therapy is usually accompanied by diminished shedding of the virus. Based on limited data, foscarnet, a pyrophosphate analogue, also appears to have some efficacy in treating cytomegalovirus infection. Unlike ganciclovir, foscarnet does not cause myelosuppression. An important direction for future clinical research is the development of more effective and less toxic therapy, as well as orally bioavailable drugs for maintenance therapy.

Serious Cytomegalovirus Disease in the Acquired Immunodeficiency Syndrome (AIDS): Clinical Findings, Diagnosis, and Treatment

The neurological complications secondary to embolism from atrial myxoma are reviewed. A patient with intracranial and skeletal metastases is described to emphasise the malignant potentiality of this tumour. A classification of atrial myxoma metastases is presented.

https://jnnp.bmj.com/content/jnnp/41/12/1119.full.pdf

Atrial myxoma: a review of the neurological complications, metastases, and recurrences

A 38-year-old black man died from acquired immunodeficiency syndrome (AIDS) after a 15-month course. The autopsy revealed a pancolitis and a pneumonia caused by cytomegalovirus (CMV). Exceptionally, there also was a periventricular encephalitis caused by the same organism. Identification of the virus was aided by immunoperoxidase methods.

Cytomegalovirus encephalitis in acquired immunodeficiency syndrome

✓ The authors found that cavities in the spinal cord of dogs appearing after the intracisternal administration of kaolin are not due to ischemic softening, but rather to distention and subsequent rupture of the central canal. Ischemic lesions could be produced and were found to have a quite different histopathology; this supports the hydrodynamic hypothesis of cavitary myelopathy following adhesive arachnoiditis, probably as a compensatory mechanism to the associated hydrocephalus. The similarities to human syringomyelia are discussed.

Experimental hydrosyringomyelia, ischemic myelopathy, and syringomyelia.

Von Hippel-Lindau's Disease is an hereditary disorder characterized by the development of hemangioblastomas of the cerebellum and retina and a variety of cystic and neoplastic lesions of other organs such as renal cell carcinoma and pheochromocytoma. In a single generation of a family with Von Hippel-Lindau's disease, all four siblings developed lesions classically associated with the complex. Additionally, two of the four developed islet cell tumors of the pancreas, one in one patient and five in the other. While a familial incidence of islet cell tumors is known in multiple endocrine adenomatosis, type I and Zollinger-Ellison syndrome, such a familial occurrence has been heretofore unrecorded in the Von Hippel-Lindau complex.

Familial islet cell tumors in Von Hippel-Lindau's disease.

A slowly progressive autosomal dominant neuromuscular disease–termed spheroid body myopathy–is described in four successive generations and documented by muscle biopsies in five patients of two generations. With an onset in adolescence, the disease proceeds to some motor incapacitation, but life span is apparently not shortened. The salient morphologic feature is the presence of spheroid bodies, chiefly occurring in type 1 myofibers. Ultrastructurally, these spheroid bodies are composed of fine filaments but are devoid of organelles; in some cases they resemble cytoplasmic bodies. “Smearing in the l-band” is a frequent and early finding. At a later age, signs of denervation are also present, both clinically and in muscle biopsies. The clinical and morphologic features justify the designation of this neuromuscular condition as a distinct entity.

Jans Muller

Papers

Atrial myxoma: a review of the neurological complications, metastases, and recurrences

Cytomegalovirus encephalitis in acquired immunodeficiency syndrome

Experimental hydrosyringomyelia, ischemic myelopathy, and syringomyelia.

Familial islet cell tumors in Von Hippel-Lindau's disease.

Autosomal dominant “spheroid body myopathy”