scholarly journals Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia

2021 ◽  
Author(s):  
Dror Paley
Keyword(s):  
Skeletal Maturity ◽  
Limb Lengthening ◽  
Adult Onset ◽  
Juvenile Onset ◽  
Normal Height ◽  
Height Range ◽  
Long Term Follow Up ◽  
Males And Females

Extensive limb lengthening (ELL) was completed in 75 patients: 66 achondroplasia and 9 hypochondroplasia. The average lengthening was 27cm for achondroplasia (12-40cm) and 17cm for hypochondroplasia (range 10-25cm). There were 48 females and 27 males. Lengthening was done either by 2-segment (14 patients; both tibias and/or both femurs) or by serial 4-segment lengthenings (64 patients; both femurs and tibias same time). Most patients also had bilateral humeral lengthening. Lengthenings were either juvenile-onset (31), adolescent-onset (38) or adult-onset (6). The average age at final follow-up was 26 years old (range 17-43 years). There were few permanent sequelae of complications. The most serious was one paraparesis. All patients returned to activities of normal living and only one was made worse by the surgery (paraparesis). This is the first study to show that ELL can lead to increase of height into the normal height range. Previous studies showed mean increases of height of up to 20cm, while this study consistently showed an average increase of 30 cm (range 15-40cm) for juvenile-onset and increase of 26cm (range 15-30cm) for adolescent-onset. This results in lower normal height at skeletal maturity for males and females. The adult-onset had a mean increase of 16.8 (range 12-22cm). This long-term follow-up study shows ELL can be done safely even with large lengthenings and that 4-segment lengthening may offer advantages over 2-segment lengthening. While the majority of cases were performed using external fixation, implantable limb lengthening promises to be an excellent alternative and perhaps an improvement.

scholarly journals Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia

Children ◽  
2021 ◽  
Vol 8 (7) ◽  
pp. 540
Author(s):  
Dror Paley
Keyword(s):  
Skeletal Maturity ◽  
Limb Lengthening ◽  
Adult Onset ◽  
Juvenile Onset ◽  
Normal Height ◽  
Height Range ◽  
Humeral Lengthening ◽  
Long Term Follow Up

Extensive limb lengthening (ELL) was completed in 75 patients: 66 achondroplasia and 9 hypochondroplasia. The average lengthening was 27 cm for achondroplasia (12–40 cm) and 17 cm for hypochondroplasia (range 10–25 cm). There were 48 females and 27 males. Lengthening was done either by 2-segment (14 patients; both tibias and/or both femurs) or by 4-segment lengthenings (64 patients; both femurs and tibias at the same time). Most patients also had bilateral humeral lengthening. Patients had 2 or 3 lower limb lengthenings and one humeral lengthening. Lengthenings were either juvenile-onset (31), adolescent-onset (38) or adult-onset (6). The average age at final follow-up was 26 years old (range 17–43 years). There were few permanent sequelae of complications. The most serious was one paraparesis. All patients returned to activities of normal living and only one was made worse by the surgery (paraparesis). This is the first study to show that ELL can lead to an increase of height into the normal height range. Previous studies showed mean increases of height of up to 20 cm, while this study consistently showed an average increase of 30 cm (range 15–40 cm) for juvenile-onset and mean increase of 26 cm (range 15–30 cm) for adolescent-onset. This results in low normal height at skeletal maturity for males and females. The adult-onset had a mean increase of 16.8 (range 12–22 cm). This long-term follow-up study shows that ELL can be done safely even with large lengthenings and that 4-segment lengthening may offer advantages over 2-segment lengthening. While all but the more recent cases were performed using external fixation, implantable limb lengthening promises to be an excellent alternative and perhaps an improvement.

The modified Stulberg classification is a strong predictor of the radiological outcome 20 years after the diagnosis of Perthes’ disease

2021 ◽  
Vol 103-B (12) ◽  
pp. 1815-1820
Author(s):  
Stefan Huhnstock ◽  
Ola Wiig ◽  
Else Merckoll ◽  
Svein Svenningsen ◽  
Terje Terjesen
Keyword(s):  
Femoral Head ◽  
Skeletal Maturity ◽  
Strong Predictor ◽  
Perthes Disease ◽  
Radiological Outcome ◽  
Long Term Follow Up ◽  
The Mean ◽  
Stulberg Classification

Aims The aim of this study was to assess the prognostic value of the modified three-group Stulberg classification, which is based on the sphericity of the femoral head, in patients with Perthes’ disease. Methods A total of 88 patients were followed from the time of diagnosis until a mean follow-up of 21 years. Anteroposterior pelvic and frog-leg lateral radiographs were obtained at diagnosis and at follow-up of one, five, and 21 years. At the five- and 21-year follow-up, the femoral heads were classified using a modified three-group Stulberg classification (round, ovoid, or flat femoral head). Further radiological endpoints at long-term follow-up were osteoarthritis (OA) of the hip and the requirement for total hip arthroplasty (THA). Results There were 71 males (81%) and 17 females. A total of 13 patients had bilateral Perthes’ disease; thus 101 hips were analyzed. At five-year follow-up, 37 hips were round, 38 ovoid, and 26 flat. At that time, 66 hips (65%) were healed and 91 (90%) were skeletally immature. At long-term follow-up, when the mean age of the patients was 28 years (24 to 34), 20 hips had an unsatisfactory outcome (seven had OA and 13 had required THA). There was a strongly significant association between the modified Stulberg classification applied atfive-year follow-up and an unsatisfactory outcome at long-term follow-up (p < 0.001). Between the five- and 21-year follow-up, 67 hips (76%) stayed in their respective modified Stulberg group, indicating a strongly significant association between the Stulberg classifications at these follow-ups (p < 0.001). Conclusion The modified Stulberg classification is a strong predictor of long-term radiological outcome in patients with Perthes’ disease. It can be applied at the healing stage, which is usually reached five years after the diagnosis is made and before skeletal maturity. Cite this article: Bone Joint J 2021;103-B(12):1815–1820.

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A

2017 ◽  
Vol 19 (2) ◽  
pp. 147-151 ◽  
Author(s):  
Çiğdem Özkara ◽  
Ayşegül Gündüz ◽  
Tülin Coşkun ◽  
Bengi Gül Alpaslan ◽  
Burcu Zeydan ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Type A ◽  
Adult Onset ◽  
Ceroid Lipofuscinosis ◽  
Long Term Follow Up

Long-term follow-up of patients with adult-onset subacute sclerosing panencephalitis

2008 ◽  
Vol 275 (1-2) ◽  
pp. 113-116 ◽  
Author(s):  
Erdal Eroglu ◽  
Zeki Gokcil ◽  
Semai Bek ◽  
Umit H. Ulas ◽  
Mehmet F. Ozdag ◽  
...  
Keyword(s):  
Subacute Sclerosing Panencephalitis ◽  
Adult Onset ◽  
Long Term Follow Up

Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann–Pick type C case

2020 ◽  
Vol 10 (2) ◽  
pp. 73-80
Author(s):  
María de la Concepción Fournier del Castillo ◽  
Silvia Cámara Barrio ◽  
Borja Esteso Orduña ◽  
Izaskun Basterra Jiménez ◽  
Laura López Marín ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Adult Onset ◽  
Juvenile Onset ◽  
Neuropsychological Development ◽  
Impaired Cognitive Function ◽  
Type C ◽  
Niemann Pick ◽  
Lipid Storage Disorder

Niemann–Pick type C (NP-C) disease is a neurovisceral atypical lysosomal lipid storage disorder with a poor prognosis. We present the 5-year neuropsychological follow-up of a patient with juvenile onset NP-C, spanning the pre-diagnostic stage to the period after treatment with miglustat (Actelion Pharmaceuticals Inc., CA, US). In the initial stages of the disease, the patient presented behavioral dysexecutive symptoms resembling those frequently observed in adult-onset forms and frontotemporal dementia, which frequently makes early diagnosis difficult in children. After 4 years of treatment, the impaired cognitive function and behavioral dysexecutive syndrome had been completely reversed. The variability of NP-C disease makes early diagnosis challenging. Evaluations of long-term neuropsychological development can help diagnose this neurodegenerative disease and document its progression.

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