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Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.

This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Anecdotal findings in our large sample seem to provide interesting clues about the protean mechanisms of brain injury in this rare disease and further highlight the broad spectrum of MR imaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease.

Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of the lesions showed extensive small-vessel proliferation and gliosis. A distinct deficiency of complex I of mitochondrial respiratory chain was established in cultured fibroblasts, skeletal muscle, and heart muscle. Specific lack of complex I protein was demonstrated by two-dimensional gel electrophoresis

Oral comunication for American Society of Neuroradiology 45th Annual Meeting. Chicago, June 9-14 2007

Nonspecific osteomyelitis in children and adolescents can be diagnosed in patients 2 to 16 years old and may present as acute, subacute or chronic. During the last 9 years, 40 pediatric patients (aged 2 to 16 years) affected with extra-axial inflammatory bone lesions were examined. The series of cases was then reviewed. This work was aimed at investigating the role of various imaging modalities: conventional radiology (CR), bone scan with technetium-99 methylene diphosphonate (99mTc-MDP), scintigraphy with technetium-esamethylpropylenaminoxima labelled leukocytes (99mTc-HMPAO), computed tomography (CT) and magnetic resonance imaging (MRI) were used to detect the lesions, to make a differential diagnosis and to assess different disease stages. As for acute osteomyelitis (6 patients), CR showed a lytic lesion, periosteal new bone and soft tissue swelling in 4/6 patients; no abnormalities were demonstrated in the other two. Bone scan, CT and MRI depicted bone involvement. CT and MRI also showed inflammatory lesion spread to surrounding soft tissue. 99mTc-HMPAO scintigraphy was not performed in acute osteomyelitis, because of technical difficulties in performing the exam promptly; thus, the early diagnosis of lesion nature was made with bone biopsy. As for subacute osteomyelitis (23 patients), 99mTc-HMPAO scintigraphy was performed in 8/23 patients and proved to be a highly sensitive method, showing cell clusters and confirming the diagnosis of inflammatory lesion. MRI showed a focal area of intermediate-low signal intensity on T1-weighted sequences, with small focal intralesional areas of low intensity, a low-signal perifocal rim and diffusely low signal of surrounding bone marrow. T2-weighted images showed high signal intensity in both the abscess lesion and bone marrow, the latter probably due to edema. In 5 patients, a paramagnetic contrast agent (Gd-DTPA) was administered during MRI and showed inhomogeneous enhancement of both the inflammatory lesion and surrounding bone marrow. As for chronic osteomyelitis (7 patients), MRI was performed in 5/7 patients. In 4 patients the lesion appeared as a low-signal area on T1-weighted images while T2-weighted images showed an inhomogeneous high-signal area. In the same patients, 99mTc-HMPAO scintigraphy was always positive. In patient 5, the lesion was represented by a low-signal area on both T1 and T2-weighted images, while 99mTc-HMPAO was negative. Therefore, in chronic osteomyelitis, both MRI and 99mTc-HMPAO were useful in detecting both spinal and peripheral bone involvement, which was in some cases asymptomatic at first observation CR, CT (3/4) and MR (4/4) findings extra-axial localizations were similar to those in subacute-chronic forms.

Spinal dysraphism represents a very rare congenital anomaly of the spinal cord and cauda equina, often associated with cutaneous sacral lesions. This condition results in distorsion of neural tissue, possibly leading to vesical dysfunction and urinary incontinence. A series of 12 children with spinal dysraphism (4 lipomeningoceles with tethered cord, 3 tight filum terminale, 2 dermal sinuses, 2 arachnoid cysts, 1 anterior meningocele) observed during the last 6 years is presented. The patients are divided into two groups: group A includes 5 infants (age range 4 months-2 years) and group B 7 older children (4-12 years). All 7 patients of group B were referred for urinary incontinence as their chief complaint; only 1 had evidence of a skin lesion while 3 had a club foot. In group A, 4 had skin lesions (2 asymptomatic and 2 dermal sinuses referred after several episodes of meningitis) and the 5th child had a club foot. The diagnosis was made by myelo-CT scan in the earlier 4 and by magnetic resonance imaging in the more recent 8 cases. All 12 children were operated. In group B, the patients' urinary incontinence persisted but did not worsen (3 were stable and 4 had slightly improved); in group A, 2 were dry (follow-up greater than 2 years), 1 could not be accurately evaluated because he was less than 2 years of age, and the 2 who suffered from meningitis were incontinent. Early diagnosis and neurosurgical treatment of spinal dysraphism may prevent urinary incontinence. Accurate urodynamic, neurophysiologic, and neuroradiologic evaluation of children with severe voiding anomalies or club foot is recommended even if no lumbosacral cutaneous lesions are present.