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EN
Carpal tunnel syndrome and benign recurrent intrahepatic cholestasis are rare conditions in childhood. Benign intrahepatic cholestasis is characterized by repeated self-limited attacks of cholestasis that can start at any age and last from weeks to months. The patients are asymptomatic between these attacks. We report a 16 year-old male patient with benign recurrent intrahepatic cholestasis who developed carpal tunnel syndrome during a cholestatic attack. He was admitted with complaints of jaundice, pruritus and pain, tingling and muscle weakness in both hands for 15 days. Nerve conduction studies revealed findings compatible with carpal tunnel syndrome. He was started on ursodeoxycholic acid, fat soluble vitamins and cholestyramine and cholestasis regressed after four weeks of therapy. With the improvement of cholestasis, the symptoms of carpal tunnel syndrome also disappeared. In conclusion, benign recurrent intrahepatic cholestasis can be a rare cause of carpal tunnel syndrome in childhood. We also advocate treating the underlying disease as an appropriate conservative treatment before surgery.
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Ascites with no fluid in Morison’s pouch?

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EN
Omental cysts are the least common cystic lesions of the abdomen. Large intraabdominal cysts can mimic ascites. The incidence of 1 in 20000 pediatric hospital admissions makes them hard to diagnose. We report a three year-old boy with accidentally discovered intraperitoneal fluid collection on ultrasonography. The patient was scheduled for operative treatment with working diagnosis of ascites, but finding of no fluid in Morison’s pouch brought to massive cystic intraabdominal lesion as differential diagnosis. The cyst was emptied; altered parts of the greater omentum were completely excised. Final pathology confirmed lymphangioma. Explorative laparotomy led to correct diagnosis and proper surgical treatment.
EN
Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by degeneration of alphamotoneurons. It leads to progressive muscle atrophy and weakness, and, in more severe cases to a total loss of motor function, respiratory insufficiency and death. In November 2017, an update in the Standards of Care (SOC) in SMA was published. For detailed rehabilitation guidelines, the patients were divided into groups according to their functional state – „bedridden”, „sedentary” and „ambulatory”. We focus on the guidelines for physiotherapy and rehabilitation, more specifically on methods of functional assessment recommended for the youngest patients with SMA. For evaluation, it is suggested to use either CHOP-INTEND (The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders) or HINE (Hammersmith Infant Neurological Examination) that are both based on WHO (World Health Organization) milestones. Regular assessment is necessary both for the evaluation of the course of the disease, as well as to capture possible improvement through pharmacological treatment.
PL
Rdzeniowy zanik mięśni (SMA – ang. Spinal Muscular Atrophy) to choroba nerwowo-mięśniowa charakteryzująca się degeneracją motoneuronów alfa – komórek rogów przednich rdzenia kręgowego. Prowadzi to do postępującej atrofii i osłabienia mięśni, zaś w cięższych przypadkach do całkowitej utraty funkcji motorycznych, niewydolności oddechowej i zgonu. W listopadzie 2017 ukazała się aktualizacja standardów opieki (Standards of Care – SOC) w SMA. Istotne miejsce w opiece ma fizjoterapia oraz ocena stanu funkcjonalnego przy pomocy walidowanych skal. Dla wyznaczenia szczegółowych wytycznych dotyczących rehabilitacji pacjenci zostali podzieleni ze względu na ich stan funkcjonalny na „niesiedzących”, „siedzących” oraz „chodzących”. W aktualnym omówieniu prezentujemy metody oceny funkcjonalnej dla najmłodszych pacjentów z SMA. Do ewaluacji zalecane są skale CHOP-INTEND (The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders) oraz HINE (Hammersmith Infant Neurological Examination). Regularna ocena jest wskazana dla określenia przebiegu choroby oraz skuteczności potencjalnych nowatorskich terapii SMA.
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