, MD; the DECIMAL investigators Background and Purpose-"Sinking skin flap" (SSF) syndrome is a rare complication after large craniectomy that may progress to "paradoxical" herniation as a consequence of atmospheric pressure exceeding intracranial pressure. The prevalence and characteristics of SSF syndrome after hemicraniectomy for malignant infarction of the middle cerebral artery are not well known. Methods-We analyzed a prospective cohort of 27 patients who underwent hemicraniectomy for malignant middle cerebral artery infarction. All had a clinical and brain imaging follow-up at 3 months and were followed until cranioplasty. Results-Three of 27 patients (11%) had, at 3 to 5 months posthemicraniectomy, SSF syndrome with severe orthostatic headache as the main symptom. Key Words: complications Ⅲ surgery Ⅲ hemicraniectomy Ⅲ malignant cerebral artery infarction Ⅲ herniation T he syndrome of the "trephined" or the "sinking skin flap" (SSF) syndrome is a rare complication after a large skull bone defect. 1 It consists of a sunken skin above the bone defect with neurological symptoms such as severe headaches, mental changes, focal deficits, or seizures. 1,2 The SSF may progress to "paradoxical herniation" as a consequence of the atmospheric pressure exceeding intracranial pressure and may eventually lead to coma and death.The objective of our study was to determine, in a prospective cohort of malignant infarction of the middle cerebral artery (MCA), the prevalence and characteristics of SSF syndrome and of any radiological sunken skin flap without symptoms after hemicraniectomy. Materials and Methods PatientsAll patients randomized in the surgical arm of DEcompressive Craniectomy In MALignant middle cerebral artery infarcts (DECIMAL), a trial that compared medical treatment and hemicraniectomy in malignant MCA infarction as well as all consecutive patients who had hemicraniectomy for a malignant MCA infarction in our stroke center after the end of DECIMAL inclusion but according to the same criteria, were considered. 3 All surviving patients had at the 3-month follow-up a clinical and brain imaging evaluation (axial and/or coronal fluid-attenuated inversion recovery MRI and/or axial and/or coronal CT scan) and were then followed every 3 months for 1 year. The timing and procedure of cranioplasty were left to the discretion of the neurosurgeon. The study was approved by an institutional ethics committee, and the patient or a close relative gave informed consent. Radiological EvaluationThe following measures were performed by the same neuroradiologist (J.-P.G.): (1) the maximum horizontal surface of the skull was estimated either on axial CT scan or axial fluid-attenuated inversion recovery MRI using the following formula: /4ϫAϫB in which "A" was the maximum distance from the anterior and posterior inner tables of the skull and "B/2" the half-depth to the inner skull surface opposite to the bone flap measured at the midpoint of "A"; (2) the whole surface of craniectomy was estimated either on coronal reformation and ...

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Background: Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted ε-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. Objectives: To describe and investigate the combination of a typical myoclonus-dystonia syndrome and Silver-Russell syndrome. Design: Clinical and neurophysiological examination as well as cytogenetic and molecular analyses. Setting: Movement disorder clinic. Patient: A 36-year-old man with typical myoclonusdystonia and Silver-Russell syndrome. Main Outcome Measures: Clinical description of the disease and its genetic cause. Results: Cytogenetic analysis revealed mosaicism for a small chromosome 7 marker chromosome. Microsatellite analysis indicated loss of the paternal allele and maternal uniparental disomy of chromosome 7. In keeping with the maternal imprinting mechanism, no unmethylated allele of SGCE was detected after bisulfite treatment of the patient's DNA, and reverse transcription-polymerase chain reaction demonstrated loss of SGCE expression. Molecular analysis ruled out mutations in the SGCE gene. Conclusions: We identified a new genetic alterationmaternal chromosome 7 disomy-that can cause myoclonus-dystonia. This alteration results in repression of both alleles of the maternally imprinted SGCE gene and suggests SGCE loss of function as the disease mechanism.

As severity of cervical dystonia and age are the major risk factors for spinal cord lesions, dystonic patients, including patients with dystonic CP, should be screened for CM from the third decade of life onwards. Early recognition of CM is crucial for functional prognosis and impact on autonomy.