ABSTRACT
Two siblings affected with Cockayne syndrome (CS) are described: this diagnosis was suggested by the finding of a demyelinating neuropathy on electromyography in both children and consistent clinical features. CS is a rare genetic disorder with severe prognosis and a highly varied phenotype, making early diagnosis difficult. Taking into account these two cases and the literature, the current diagnosis criteria are insufficiently specific and appear late: the diagnosis may be delayed because multi-organ involvement and sensorial impairment suggests more frequent neurometabolic disorders. Neuroradiologic abnormalities are suggestive but may occur later. The finding of a demyelinating peripheral neuropathy seems to be a more useful marker to suspect this disorder in the presence of other clinical features. Further studies are required to better define the chronology of the symptoms, not only for adequate genetic counseling and eventual prenatal diagnosis, but also to assess the efficacy of future therapies.
Subject(s)
Cockayne Syndrome/diagnosis , Cockayne Syndrome/genetics , Demyelinating Diseases/diagnosis , Demyelinating Diseases/genetics , Early Diagnosis , Peripheral Nervous System Diseases/diagnosis , Peripheral Nervous System Diseases/genetics , Child , Child, Preschool , Diagnosis, Differential , Electromyography , Female , Follow-Up Studies , Genetic Counseling , Humans , Infant , Infant, Newborn , Male , Neurologic Examination , Phenotype , Prognosis , Rare DiseasesABSTRACT
Lyme borreliosis should be considered in any child affected with acute peripheral facial palsy without obvious cause in endemic areas, especially if it happens from May to November, with a history of erythema migrans, tick bite, or possible exposure during the previous weeks. The clinical appearance of Lyme borreliosis differs between adults and children and according to the geographical origin of the infection: therefore it is difficult to interpret and follow the recommendations for the management and treatment of this disease. Neuroborreliosis is more frequent in Europe than in the United States, and meningitis associated to facial palsy occurs earlier and is more frequent among the European pediatric population, too. When peripheral facial palsy occurs and there is suspicion of Lyme borreliosis, it seems necessary to perform a lumbar puncture in order to support the diagnosis with detection of intrathecal synthesis of specific antibodies, sometimes more abundant than in the serum, and thus to adapt the antibiotic therapy modalities. Parenteral antibiotherapy is recommended if any involvement is detected in the cerebrospinal fluid, while oral antibiotherapy should be prescribed for isolated facial palsies. Follow-up should be made according to clinical symptoms with a close collaboration between pediatricians, infection disease specialists, and ENT specialists.
