MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis.

BACKGROUND AND PURPOSE: Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accumulation leads to neuronal injury, resulting in rapid neurodegeneration and childhood death. As part of a project studying the treatment benefits of a combination of cysteamine bitartrate and N-acetyl cysteine, we made serial measurements of patients' brain volumes with MR imaging. MATERIALS AND METHODS: Ten patients with infantile neuronal ceroid lipofuscinosis participating in a treatment/follow-up study underwent brain MR imaging that included high-resolution T1-weighted images. After manual placement of a mask delineating the surface of the brain, a maximum-likelihood classifier was applied to determine total brain volume, further subdivided as cerebrum, cerebellum, brain stem, and thalamus. Patients' brain volumes were compared with those of a healthy population. RESULTS: Major subdivisions of the brain followed similar trajectories with different timing. The cerebrum demonstrated early, rapid volume loss and may never have been normal postnatally. The thalamus dropped out of the normal range around 6 months of age; the cerebellum, around 2 years of age; and the brain stem, around 3 years of age. CONCLUSIONS: Rapid cerebral volume loss was expected on the basis of previous qualitative reports. Because our study did not include a nontreatment arm and because progression of brain volumes in infantile neuronal ceroid lipofuscinosis has not been previously quantified, we could not determine whether our intervention had a beneficial effect on brain volumes. However, the level of quantitative detail in this study allows it to serve as a reference for evaluation of future therapeutic interventions.

Human leg heating using a mini-annular phased array.

The energy deposition pattern within an isolated human leg heated with a mini-annular phased array (MAPA) hyperthermia applicator has been determined. The non-tumor-bearing lower portion of a human leg amputated at the hip due to the presence of a large tumor in the thigh was "fixed" in a 50% ethanol in 0.9% saline solution. Subsequent to this fixation process, the leg was rehydrated in 0.9% saline and heated four times using a MAPA operating at 122 MHz. Specific absorption rates and electric field strengths were calculated from the rates of change of temperature with time measured at 143 different anatomical locations within the leg. When the leg was coaxial with the MAPA and the MAPA was axially positioned midway between the knee and the ankle, the points of maximum heating were skewed away from the center of the MAPA, towards the ankle of the leg and along the central axis of the MAPA. Significant temperature rise was measured inside the bone and the fat as well as inside the muscle of the leg. Bone heating was reduced when the leg was shifted away from the MAPA axis.