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Invasive Procedures

Lumber Puncture (LP)

It is a method used to examine the liquid circulating around the spinal cord and in the cavities in the brain and. Performing LP may be required to observe the symptoms of various diseases (infection, bleeding, tumor, metabolic-degenerative, multiple sclerosis, etc.), to measure the intracranial pressure and to apply treatment.

Neuromuscular Diseases and Skin-Muscle-Nerve Biopsy: Pediatric Neurology Unit of Hacettepe University Faculty of Medicine is one of the most significant reference centers in our country, in terms of neuromuscular diseases, as well as other branches. It has been leading the activities in our country on identifying new diseases, determining the genetic and clinic characteristics of them, developing treatment options, in addition to the services offered to families. Muscular dystrophy and its various types, inflammatory myopathies, congenital muscular dystrophies, non-progressive myopathies, myotonic dystrophies, myotonia syndromes, mitochondrial diseases, and spinal muscular atrophies are the major disease groups that are followed up. Molecular diagnosis of Duchenne muscular dystrophy, spinal muscular atrophy (SMA), point mutations and deletions in mitochondrial diseases, Friedreich’s ataxia (FRDA) and certain subtypes of congenital muscular dystrophies is possible with the collaboration of Medical Biology, Genetics, and Pediatric Pathology departments. Prenatal diagnosis on these diseases is also possible. Patients who are suspected with “neuromuscular disease” are followed up in the departments of “Neuromuscular group” and Nutrition and Diet of the Orthopedics, physiotherapy and rehabilitation vocational school. Firstly the patients are queried in terms of complaints, stories and intrauterine fetal movements, detailed motor and mental development stages and then they are evaluated along with their family stories and family trees. While serum creatine kinase (CK) and muscle ultrasonography are the first step of laboratory examinations, electromyography (EMG) is not generally preferred in childhood, except for the selected cases, since it is difficult to apply and requires experience. However this test is quite significant in myasthenia gravis and peripheral nerve diseases. Muscle biopsy is performed by specialized physicians on patients for whomindications are made in the biopsy room located in Pediatric Pathology Unit. While the skin biopsy is a frequently performed test, it is usually collected together with muscle tissue and it holds considerably high value in diagnostic terms. And nerve biopsy has been decreasingly performed in childhood diseases.

Considerations before muscle biopsy

  • • Muscle biopsies are performed between 08:00 and 08:30 in every morning. Thus, appointment should be received from the relevant specialized physician before biopsy. It is necessary to apply on the previous day for the planning of the necessary premedication and provision of necessary materials and set required for biopsy.

  • • While the children under the age of 10 are applied premedication with cardiac cocktail or chloral hydrate when needed, in addition to the local anesthesia before biopsy, the children over 10 years are and cooperative are applied only local anesthesia. Fasting is not required before biopsy.

  • • Premedication is applied half an hour prior the biopsy in pediatric emergency outpatient clinic of the hospital.

  • • The known diseases, allergic reaction against local anesthetics and medications in use should be notified before biopsy.

  • • Muscle biopsies are generally applied with a incision of approximately 3 cm on the right thigh. The muscle piece taken does not cause weakness since it is small. The incision is closed with three sutures.

  • • The site of biopsy is disclosed after remaining closed for 24 hours and dressed for three- four times in a day and then the sutures are removed on the tenth day.

  • • During the week after biopsy, oral antibiotic and also analgesic is applied, when needed. It is suggested the children to rest and to avoid excessive activities during the day of biopsy. On the following day, patients can return to their daily activities.

  • • The biopsy results are reported by Pediatric Pathology Unit within approximately 1 month and the patients are reevaluated then families are notified about suspected diseases in addition to the necessary instructions and additional tests.