Your browser doesn't support javascript.
loading
: 20 | 50 | 100
1 - 20 de 21
1.
Eur J Med Genet ; 63(10): 104022, 2020 Oct.
Article En | MEDLINE | ID: mdl-32712215

The oculocerebrorenal syndrome of Lowe (LS) is a rare, progressive, multisystemic X-linked disorder caused by mutations in OCRL gene. Patients classically present with ocular abnormalities including bilateral congenital cataracts and glaucoma, intellectual delay, severe generalized hypotonia with absent tendon reflexes, and proximal renal tubular dysfunction. Congenital bilateral cataracts and hypotonia are present at birth in almost all patients, while other classical symptoms develop gradually with variable severity. Consequently, differential diagnosis in infant period in these patients can be broad including other rare metabolic and neurologic disorders. Herein we present a 4.5 year old boy with Lowe syndrome caused by mutation of OCRL gene, NM_000276.4:c.643C > T; p.(Gln215*), initially diagnosed as having mitochondriopathy due to alteration of mitochondria on electron microscopic examination in different tissues and decreased values of mitochondrial energy metabolism measurements in muscle. No pathogenic mutations in mitochondrial DNA were found on whole exome sequencing. This patient recall historical hypothesis of secondary mitochondrial dysfunction in Lowe syndrome, that may be caused/intensified by some of disease symptoms.

2.
Curr Opin Pediatr ; 32(1): 113-119, 2020 Feb.
Article En | MEDLINE | ID: mdl-31789974

PURPOSE OF REVIEW: We present the reader with insight on the most common disorders of the knee in newborns and infants. Knee issues in this population may confuse the first contact physicians due to certain peculiarities of the immature immune system, small size and underdevelopment of joint anatomy. Data presented here are recent and significant, and something to bear in mind when caring for children of this age. RECENT FINDINGS: With the advent of new diagnostic methods, a shift in the causative agent of pediatric knee infections has been noted. Minimally invasive methods such as arthrocentesis and arthroscopy are successfully employed in treatment of knee problems in newborns and infants. A trial of conservative therapy in congenital patellar instability can give good results, and obviate the need for surgery in some cases. Various syndromes that affect the knee have specific characteristics that need to be recognized early to avoid problems in the future. SUMMARY: Although rare, knee problems in infants can and do occur. Their cause varies significantly and good outcomes require a multidisciplinary approach. Early diagnosis, referral and initiation of treatment protocols can significantly influence the fate of the joint and with it the patients' functional status for life.

3.
J Pediatr Orthop B ; 28(5): 505-508, 2019 Sep.
Article En | MEDLINE | ID: mdl-30720562

Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones. It is our aim to illustrate variability in clinical presentation of severe form of OI. As an example of personalized surgery approach we present an 11-year-old girl with OI type III. Prior to referral to our hospital, she was treated with 18 cycles of bisphosphonates as well as with several different surgical procedures. Due to no improvement in her mobility status she underwent two additional surgeries at our hospital with a 5-month interval between them. Prior to the surgery, molecular genetic analysis was performed and the clinical diagnosis of OI was confirmed. Using the Fassier-Duval intramedullary telescoping nail, we performed correction osteotomies of both femurs and lower legs in two separate settings, with a very good final result. According to our experience, the Fassier-Duval nailing system is good option, but one should pay attention to many details while performing surgery. Thus, making treatment of OI patients very personalized. In this paper we present a unique personalized approach in OI: firstly, diagnosing COL1A1 gene mutations and secondly, performing a complex two-part surgery.


Fracture Fixation, Intramedullary/methods , Osteogenesis Imperfecta/surgery , Osteotomy/methods , Alleles , Bone Nails , Child , Collagen Type I/genetics , Diphosphonates/therapeutic use , Female , Femur/diagnostic imaging , Femur/surgery , Gene Silencing , Humans , Internal Fixators , Mutation , Reoperation
5.
J Foot Ankle Surg ; 57(6): 1246-1252, 2018.
Article En | MEDLINE | ID: mdl-30177452

Longitudinal epiphyseal bracket (LEB) is a rare bone dysplasia of the tubular bones. Owing to an abnormal secondary ossification center, the affected bones can develop progressive shortening and angular deformity. The aim of our study was to provide an overview of the reported data regarding epidemiology and surgical procedures available for LEB of the first metatarsal bone in a pediatric population combined with a small case series. We report a retrospective case series of 3 nonsyndromic pediatric patients with different ages and with confirmed dysplasia of the first metatarsal bone. All patients presented with unilateral congenital hallux varus deformity and underwent surgical treatment. The radiographs and medical records were reviewed to evaluate the deformity characteristics, treatment, and clinical results. The mean patient age at initial surgery was 34 (range 12 to 63) months, and the median follow-up period was 46 (range 31 to 75) months. Almost all specific radiographic measurements showed correction of the deformity, and each foot demonstrated functional and cosmetic improvement. A standardized literature search was performed to obtain studies of LEB of the first metatarsal bone in the pediatric population. From on our results and the current data available, surgical treatment should be tailored to the patient's age and radiographic stage of LEB. However, monitoring until skeletal maturity of the feet is necessary to assess the final results.


Bone Diseases, Developmental/surgery , Foot Deformities, Congenital/surgery , Hallux Varus/surgery , Metatarsal Bones/abnormalities , Metatarsal Bones/surgery , Bone Diseases, Developmental/etiology , Child, Preschool , Epiphyses/surgery , Female , Foot Deformities, Congenital/etiology , Hallux Varus/etiology , Humans , Infant , Infant, Newborn , Male
6.
Foot Ankle Surg ; 24(4): 353-358, 2018 Aug.
Article En | MEDLINE | ID: mdl-29409237

BACKGROUND: There is an evident lack of research on timing of polydactyly surgery and its effects on treatment results. METHODS: Retrospective comparative study on foot polydactyly patients treated at our department from 1995 to 2009. Patients were divided into 2 groups, group A - under the age of 5 at surgery, and group B - 5 years and older. RESULTS: There were 24 patients (8 male, 16 female), 30 feet. Median age at surgery was 1 year (range, 9 months-4.5 years) for group A, and 8.5 years (range, 6-37 years) for group B. Median follow-up was 16.2 years (range, 7-21 years). There were 16 postaxial and 8 preaxial cases. At the last follow-up 12 patients' feet were "excellent" and 12 "good". No significant differences were identified between the two groups at final follow-up. CONCLUSIONS: Timing of surgery for foot polydactyly is not crucial for final results.


Foot Deformities, Congenital/surgery , Polydactyly/surgery , Toes/abnormalities , Adolescent , Adult , Age Factors , Child , Child, Preschool , Female , Foot Deformities, Congenital/diagnostic imaging , Foot Deformities, Congenital/rehabilitation , Humans , Infant , Male , Polydactyly/diagnostic imaging , Polydactyly/rehabilitation , Recovery of Function , Retrospective Studies , Time Factors , Toes/diagnostic imaging , Toes/surgery , Treatment Outcome , Young Adult
7.
Coll Antropol ; 38(2): 767-72, 2014 Jun.
Article En | MEDLINE | ID: mdl-25145021

Osteogenesis imperfecta or brittle bone disease, a heritable disorder of connective tissue, is the most common of the inherited disorders primarily affecting bone. There are approximately 400 individuals with OI in Croatia alone. It is estimated that twice that number is present, represented by individuals with mild OI in whom the diagnosis has not been made. Due to the relatively low number of patients in the general population, treating physicians have limited experience with this disease, either with children or adults. The basis of this disease in European populations is mostly the result of defects in the structure or processing of collagen type I, an important protein of the extracellular matrix of many tissues. Presently, molecular defects in 16 different genes have been discovered to result in at least one type of OI of which 14 are not COL1 mutation loci. Although fractures occurring with no injury or minor injury are the hallmark of OI, other non-mineralized tissues can be affected as well and the pathological changes can be present in skin, tendons, eyes, teeth and blood vessels. Clinical manifestations are very heterogeneous and numerous signs and symptoms such as blue sclera, deafness, abnormal teeth development, joint hypermobility, increased risk of hernias, capillary fragility, aneurysms etc. Although there is no cure for this disease, there are specific therapies that can reduce the pain and complications associated with OI. The purpose of this review is to provide a brief overview of the molecular basis of this disease, describe clinical presentations, as well as to present orthopaedic therapeutic modalities for the patients with OI.


Family , Osteogenesis Imperfecta/physiopathology , Humans , Osteogenesis Imperfecta/nursing
8.
Lijec Vjesn ; 136(9-10): 291-5, 2014.
Article Hr | MEDLINE | ID: mdl-25632774

The aim is to show our experience in anesthesia of patients with osteogenesis imperfecta (OI) who have undergone orthopedic surgical procedures. This is a retrospective analysis of OI patients treated at our Department from 1980 to 2012. We analyzed demographics, comorbidities, preoperative characteristics, anesthesia types, anesthetics and intraoperative and postoperative complications. In the given period, 26 OI patients were treated, using 103 surgeries, and 103 anesthesia procedures. Most procedures, a total of 68, were used in children aged 0-10 years. According to the diagnosis, OI type III was mostly encountered. The rating of the American Society of Anesthesiologist (ASA) physical status was II in most cases, a total of 99. General anesthesia was used in 89 cases, and regional anesthesia in 14. Fourteen intraoperative complications were seen, mostly difficult intubation, and six postoperative cardiovascular instability cases. With careful preparation, and knowledge of pitfalls, anesthesia in these patients should be a safe procedure.


Anesthesia , Orthopedic Procedures , Osteogenesis Imperfecta , Postoperative Complications , Anesthesia/adverse effects , Anesthesia/methods , Anesthetics/therapeutic use , Child , Child, Preschool , Croatia/epidemiology , Female , Humans , Infant , Male , Orthopedic Procedures/adverse effects , Orthopedic Procedures/methods , Osteogenesis Imperfecta/epidemiology , Osteogenesis Imperfecta/surgery , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Retrospective Studies , Treatment Outcome
10.
J Pediatr Orthop ; 34(3): 336-45, 2014.
Article En | MEDLINE | ID: mdl-23965916

BACKGROUND: Lower extremity angular deformities are common in children with skeletal dysplasia and can be treated with various surgical options. Both acute correction by osteotomy with internal fixation and gradual correction by external fixation have been used with acceptable results. Recently, the Guided Growth concept using temporary hemiepiphysiodesis for correction of angular deformities in the growing child has been proposed. This study presents the results of temporary hemiepiphysiodesis using eight-Plates and medial malleolus transphyseal screws in children with skeletal dysplasia with lower extremity angular deformities. METHODS: Twenty-nine patients (50 lower extremities) with skeletal dysplasia of different types were treated for varus or valgus deformities at 2 centers. The mean age at the time of hemiepiphysiodesis was 10±2.9 years. A total of 66 eight-Plates and 12 medial malleolus screws were used. The average follow-up time between the index surgery and the latest follow-up with the eight-Plate in was 25±13.4 months. Erect long-standing anteroposterior and lateral view radiographs were obtained for deformity planning before the procedure. Angular deformities on radiograph were evaluated by mechanical axis deviation, mechanical lateral distal femoral angle, medial proximal tibial angle, and lateral distal tibial angle. Mechanical axis deviation was also expressed as a percentage to one half of the width of the tibial plateau, and the magnitude of the deformity was classified by determining the zones through which the mechanical axis of the lower extremity passed. Four zones were determined on both the medial and lateral side of the knee and the zones were labeled 1, 2, 3, and 4, corresponding to the severity of the deformity. A positive value was assigned for valgus alignment and a negative for varus alignment. RESULTS: Patients were analyzed in valgus and varus groups. There was correction in 34 of 38 valgus legs and 7 of 12 varus legs. In the valgus group, the mean preoperative and postoperative mechanical lateral distal femoral angles were 82.1±3.7 and 91.1±4.9 degrees, respectively (P<0.001). The mean preoperative and postoperative medial proximal tibial angles were 98.5±8 and 87.8±7.1 degrees, respectively (P<0.001). Six patients with bilateral ankle valgus deformities (12 ankles) underwent single-screw medial malleolus hemiepiphysiodesis. The mean preoperative and postoperative lateral distal tibial angles were 73.9±8.7 and 86.1±6.8 degrees, respectively (P<0.001). The numbers of plates in each anatomic location were not enough to make statistical conclusions in varus legs. Four patients in the valgus group and 3 patients in the varus group did not benefit from the procedure. Mechanical axes were in zone 2 or over in 94% of the legs preoperatively, whereas postoperatively, only 23% of the legs had mechanical axes in zone 2 or over in varus and valgus groups. CONCLUSIONS: Growth modulation with an eight-Plate is a relatively simple surgery and has low risk of mechanical failure or physeal damage. It can be performed in very young patients, which is an important advantage in skeletal dysplasia. Screw purchase is reliable even in the abnormal epiphysis and metaphysis. Our results show that Guided Growth using eight-Plates in skeletal dysplasia is safe and effective. LEVEL OF EVIDENCE: Level IV.


Bone Diseases, Developmental/diagnostic imaging , Bone Diseases, Developmental/surgery , Epiphyses/diagnostic imaging , Epiphyses/surgery , Lower Extremity/diagnostic imaging , Lower Extremity/surgery , Adolescent , Ankle Joint/diagnostic imaging , Ankle Joint/surgery , Bone Screws , Child , Child, Preschool , Female , Femur/diagnostic imaging , Femur/surgery , Follow-Up Studies , Growth Plate/diagnostic imaging , Growth Plate/surgery , Humans , Knee Joint/diagnostic imaging , Knee Joint/surgery , Male , Osteotomy/instrumentation , Osteotomy/methods , Radiography , Research Report , Tibia/diagnostic imaging , Tibia/surgery , Treatment Outcome
11.
Clin Exp Rheumatol ; 31(5): 665-71, 2013.
Article En | MEDLINE | ID: mdl-23739182

OBJECTIVES: Using proteomic approach in this study, we sought to identify proteins with heparin affinity associated with rheumatoid arthritis (RA), psoriatic arthritis (PsA) and non-inflammatory arthritis (NIA). METHODS: Plasma samples from adult RA, PsA and NIA patients, 20 of each, were collected. After enrichment of proteins with heparin affinity, SDS-PAGE and in-gel digestion with trypsin were performed. Peptides were concentrated, micro-purified, separated and measured by nano-scale HPLC system coupled to a mass spectrometer. Peak lists were generated from raw spectra and searched against human complete proteome set by MaxQuant software. Statistical analysis of protein relative expression levels was done in IPython interactive Python shell using NumPy and Matplotlib libraries. Individual protein impact on the whole dataset correlation was done by excluding one protein at a time and calculating the correlation coefficient of remaining data points. RESULTS: Three hundred and eighty-four different proteins were identified keeping false discovery rate to 1%, from which 163 were identified in all three conditions. The plasma proteome showed a good correlation between rheumatoid (RA) and psoriatic arthritis (PsA). Out of 10 proteins whose impact on the correlation coefficient fell outside of two standard deviations from the mean, four were up-regulated (complement factor I, complement component C8 beta, glyceraldehyde-3-phosphate dehydrogenase and inter-alpha-trypsin inhibitor heavy chain H1), and two were down-regulated (immunoglobulin heavy chain V-III region BRO, and immunoglobulin J chain), both in PsA and RA by a similar ratio when compared to NIA. The remaining four proteins (Serpin A11, complement factor H-related protein 5, cartilage acidic protein 1 and coagulation factor IX) were down-regulated in PsA and up-regulated in RA when compared to NIA. CONCLUSIONS: We found differently expressed proteins in patients with inflammatory and non-inflammatory rheumatic conditions. Out of 384 proteins with heparin affinity four proteins should be further validated as potential diagnostic biomarkers in patients with RA and PsA.


Arthritis, Psoriatic/blood , Arthritis, Rheumatoid/blood , Blood Proteins/metabolism , Heparin/metabolism , Adult , Aged , Arthritis, Psoriatic/diagnosis , Arthritis, Rheumatoid/diagnosis , Biomarkers/blood , Chromatography, Affinity , Databases, Protein , Humans , Middle Aged , Predictive Value of Tests , Protein Binding , Proteomics/methods , Reproducibility of Results , Young Adult
12.
J Pediatr Orthop B ; 22(5): 464-9, 2013 Sep.
Article En | MEDLINE | ID: mdl-23337613

Congenital diastasis of the inferior tibiofibular joint is an extremely rare variant of dysplastic tibial anomaly, which is usually associated with significant shortening of the lower leg and ipsilateral foot deformity due to talus incarceration in the distal tibiofibular mortise. The purpose of this study was to present the long-term results of reconstructive treatment and the functional outcome after a follow-up of 11-16 years. The principles of extremity preservation and reconstruction with the Ilizarov frame have shown a stable ankle joint, a plantigrade foot, and fully independent outdoor ambulation in both patients at the final follow-up. We concluded that amputation should not be performed under this condition.


Ankle Joint/abnormalities , Fibula/abnormalities , Ilizarov Technique , Joint Diseases/congenital , Leg Length Inequality/congenital , Osteotomy/methods , Tibia/abnormalities , Ankle Joint/diagnostic imaging , Ankle Joint/surgery , Female , Fibula/diagnostic imaging , Fibula/surgery , Follow-Up Studies , Humans , Infant , Joint Diseases/diagnostic imaging , Joint Diseases/surgery , Leg Length Inequality/diagnostic imaging , Leg Length Inequality/surgery , Radiography , Tibia/diagnostic imaging , Tibia/surgery , Time Factors , Treatment Outcome
13.
Coll Antropol ; 36(2): 627-33, 2012 Jun.
Article En | MEDLINE | ID: mdl-22856255

The problem of low back pain (LBP) in children is very common and many specialists are dealing with it in everyday practice. The cause for low back pain often is not found and classified under the diagnosis of non specific low back pain. The objective of this prospective study is to determine wether children with non specific low back pain and existence of anomalies in LS spine (transitional vertebra- TV and/or Spina bifida occulta SBO) also have the degeneration of the intervertebral disc (DD) L4-L5 and/or L5-S1. This prospective study included 69 patients from 8 to 16 years of age (X 12.81) of whom 40 were male (57.97%), and 29 female (42.03%). They all were examinated in University of Zagreb, "Sestre milosrdnice" University Hospital Center, Zagreb Children's Hospital, Department of Orthopaedic, Zagreb, Croatia. The reason of their visit was non specific low back pain. Pain was measured by visual analog scale (VAS) and mean score was three, duration of pain was between two and four weeks. Also, pain was sporadic, during daytime and not connected with level of physical activity. They all have undergone an algorithm of radiological examinations. Standard AP and LL radiographs (RTG) were made, as well as magnetic resonance (MR) of LS spine and sacrum in sagittal and transversal plane in T1 and T2 weighted sequence. The anomalies of L5 and S1 were found in 65 patients: transitional vertebra classified according to Castellvi et al. and SBO. In MRI in T2 weighted sequence DD was found in 61 patients which was classified modified from Pearce. Data analysis and comparison showed that 56patients with TV and/or SBO have changes on vertebral dynamic segment L5-S1 (VDS) and that means DD. In 13 patients only DD or spinal anomaly (TV and/or SBO) were found. Correlation between anomalies and DD in those patients was established by McNemar analysis and has shown significant difference (p=0.581) in favour of the patients with anomaly and DD. This has established that all of 56 patients with spinal anomaly could have DD as known cause of LBP.


Intervertebral Disc Degeneration/complications , Low Back Pain/etiology , Lumbar Vertebrae/pathology , Sacrum/pathology , Spina Bifida Occulta/complications , Adolescent , Child , Female , Humans , Intervertebral Disc Degeneration/pathology , Low Back Pain/pathology , Magnetic Resonance Imaging , Male , Prospective Studies , Spina Bifida Occulta/pathology
14.
Lijec Vjesn ; 133(11-12): 376-84, 2011.
Article Hr | MEDLINE | ID: mdl-22329293

Langerhans' cell histiocytosis (LCH) is a disease characterised by pathologic accumulation and proliferation of histiocytes, cells from the monocyte-macrophage system, in various tissues and organs. In this retrospective study we analyzed patients charts treated in the Department of pediatric hematology and oncology at the University Hospital Zagreb with the diagnosis of LCH. Twenty-two children were diagnosed between January 1st 1996 and December 31st 2010, and all were treated with chemotherapy. 19 patients survived (86%) and the remaining 3 (14%), all under the age of 2 with multisystem disease, died. At the time of diagnosis 12 children (55%) presented with single-system disease, the most common were bone lesions in 8 children (36%). All children were treated according to protocols LCH-I and LCH -III. Eight children had mild complications of treatment and the disease itself. Diabetes insipidus remains in 4 children.


Histiocytosis, Langerhans-Cell/drug therapy , Child , Child, Preschool , Female , Histiocytosis, Langerhans-Cell/diagnosis , Histiocytosis, Langerhans-Cell/pathology , Humans , Infant , Male
15.
J Pediatr Orthop B ; 15(3): 220-1, 2006 May.
Article En | MEDLINE | ID: mdl-16601593

Congenital pseudarthrosis of the tibia remains one of the most difficult orthopaedic problems to treat. Before the use of a recombinant bone morphogenetic protein (bone morphogenetic protein-7; osteogenic protein-1) the patient with congenital pseudarthrosis of the tibia in this report had had 12 unsuccessful surgeries. Five months after radical resection of sclerotic tibial segments, Ilizarov fixation and administration of osteogenic protein-1 osteogenic device, the congenital pseudarthrosis of the tibia healed; at 45 months the tibia increased in size and the patient was fully weight bearing.


Bone Morphogenetic Proteins/therapeutic use , Pseudarthrosis/therapy , Tibia/abnormalities , Bone Morphogenetic Protein 7 , Bone Regeneration/drug effects , Child, Preschool , Combined Modality Therapy , Humans , Ilizarov Technique , Male , Osteogenesis, Distraction , Pseudarthrosis/congenital , Pseudarthrosis/pathology , Radiography , Recombinant Proteins , Tibia/diagnostic imaging , Tibia/surgery , Treatment Outcome
16.
J Orthop Trauma ; 20(1): 66-9, 2006 Jan.
Article En | MEDLINE | ID: mdl-16424814

We present the case of an 11-year-old girl who had a corrective osteotomy reconstruction using absorbable implants for a malunited capitellar fracture 3-1/2 months after a dislocation of her elbow joint. This operative stabilization enabled early joint mobilization and, finally, excellent results in terms of anatomy and function at a 2-year follow-up. We were not able to find any similar report in the English literature dealing with corrective osteotomy reconstruction using absorbable implant fixation for a malunited capitellum in a child.


Absorbable Implants , Elbow Joint/injuries , Fracture Fixation, Internal/methods , Fractures, Malunited/surgery , Joint Dislocations/surgery , Child , Elbow Joint/physiopathology , Female , Fractures, Malunited/physiopathology , Humans , Osteotomy , Range of Motion, Articular
17.
Scand J Urol Nephrol ; 39(4): 334-6, 2005.
Article En | MEDLINE | ID: mdl-16118110

An exceedingly rare case of a patient with osteogenesis imperfecta and prostate cancer is reported. The patient underwent radical prostatectomy, which had to be stopped due to the extremely narrow space for surgical manipulation. The clinical, diagnostic and operative peculiarities of the case are presented and the relevant literature reviewed.


Adenocarcinoma/surgery , Osteogenesis Imperfecta/complications , Pelvis/abnormalities , Prostatectomy , Prostatic Neoplasms/surgery , Adenocarcinoma/complications , Adenocarcinoma/radiotherapy , Humans , Male , Middle Aged , Musculoskeletal Abnormalities/etiology , Prostatic Neoplasms/complications , Prostatic Neoplasms/radiotherapy , Treatment Failure , Treatment Outcome
18.
Lijec Vjesn ; 127(7-8): 197-201, 2005.
Article Hr | MEDLINE | ID: mdl-16485836

Emergencies in pediatric orthopaedics surgery comprise a wide spectrum of diseases and injuries which demand fast diagnosis and appropriate treatement. If certain diagnostic and therapeutic measures are not undertaken punctual, in diseases like septic arthritis of the hip, acute haematogenous osteomyelitis, acute slipped capital femoral epiphysis, changes that can give arise to permanent consequences and disabilities will be developed. Well knowing of clinical features, using of ultrasound, diagnostic punctures and if necesarry using other investigations are essential for the fast diagnosis of acute infections of the locomotor system, and along with antibiotics, methodes of decompression are basics of the treatment.


Orthopedic Procedures , Child , Emergencies , Humans
19.
Lijec Vjesn ; 127(11-12): 288-92, 2005.
Article Hr | MEDLINE | ID: mdl-16583935

Hypophosphatasia is a rare metabolic bone disease characterised by defective bone and teeth mineralisation owing to reduced activity of tissue nonspecific alkaline phosphatase due to mutation in ALPL (TNSALP) gene. Seven clinical forms of HP have been described. The severity and the clinical course of hypophosphatasia are highly variable, ranging from intrauterine death to premature loss of teeth only. We report on two affected girls with hypophosphatasia and spontaneous improvement of skeletal defects. The first patient is a four-year-old girl with perinatal nonlethal form of the disease. From another family is the 15 year-old-girl, with typical clinical and radiological features of childhood hypophosphatasia. The diagnosis was based on clinical course, radiological findings, low serum alkaline phosphatase activity in patients and their parents, and later confirmed by the molecular analysis of the ALPL gene. We have described in more detail the clinical manifestations and radiological findings relevant for the recognition of hypophosphatasia, because the disorder is rare, clinical presentation heterogeneous and the recognition rate poor.


Bone Diseases, Metabolic/diagnosis , Hypophosphatasia/diagnosis , Adolescent , Bone Diseases, Metabolic/complications , Bone Diseases, Metabolic/diagnostic imaging , Child, Preschool , Female , Humans , Hypophosphatasia/complications , Hypophosphatasia/diagnostic imaging , Radiography
20.
Lijec Vjesn ; 124(1-2): 23-6, 2002.
Article Hr | MEDLINE | ID: mdl-12038094

The paper shows that rehabilitation of patients treated for arthrogryposis depends on the beginning of treatment and parents' involvement. Ten patients born between 1981 and 1998 were analyzed. In three patients the results were poor (range of movement increased up to 10), in five patients the results were fair (range of movement increased from 10 to 25), and in two patients the results were good (range of movement increased over 25). Poor result was achieved in patients whose parents were not involved in the treatment, irrespectively of its beginning. Fair results were achieved in patients whose one parent was involved and treatment began early, or both parents were involved and treatment began later. Good results were achieved in patients whose both parents were involved in the treatment, even when the beginning of treatment was somewhat delayed. For success of rehabilitation early beginning of treatment, involvement of both parents with ability of quick learning, longterm provision of treatment, and experienced medical team are mandatory.


Arthrogryposis/rehabilitation , Physical Therapy Modalities , Female , Humans , Infant , Male