Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I

Although offered, two of our Hurler patients (OMIM 607014) had not undergone bone marrow transplantation at an early stage of their disease. Rapid disease progression had resulted in a range of signs and symptoms representative of advanced neurodegeneration and debilitating somatic Hurler disease. As general palliative care had only little impact on the burden of disease, laronidase (Aldurazyme) treatment was introduced in an attempt to alleviate somatic symptoms and to improve the quality of their lives. Therapeutic benefits from enzyme replacement therapy included improvements in general physical condition and mood, as well as normalisation of the sleep patterns, disappearance of sleep apnoea syndrome and reduction of hepatosplenomegaly. Improvements in the joint mobility were mainly limited to the wrists and hips. In addition, improvements in cardiac function, stool habits, visual acuity, corneal clouding and hearing were observed in one or both patients. Irreversible skeletal changes did not deteriorate. The neurological outcome of these patients is likely not influenced as laronidase is believed not to pass the blood-brain barrier. Therefore, the decision to initiate this therapy in transplant-naïve Hurler patients with an advanced stage of the disease should be taken after careful consideration. Conclusion: We are of the opinion that the option of enzyme therapy should not be excluded in severely affected Hurler patients who cannot undergo bone marrow transplantation. Stabilization or amelioration of somatic disease and improvement of the quality of their lives should be embraced as therapeutic goals.     

Congenital clubfoot in Europe: A population‐based study

We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995–2011. Cases without chromosomal anomalies born during 2005–2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10–1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05–1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90–0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over time. Among 301 validated congenital clubfoot cases, diagnosis was confirmed for 286 (95%). In conclusion, this large population‐based study found a decreasing trend of congenital clubfoot in Europe after 1999–2002, an increasing prenatal detection rate, and a high standard of coding of congenital clubfoot in EUROCAT.     

Management of blunt pancreatic trauma in children

Purpose  Blunt abdominal trauma is the major cause of abdominal injury in children. Because of the retroperitoneal location, insidious signs and symptoms and the lack of sensitivity with common imaging modalities often lead to difficulties in making an accurate diagnosis. The most common complication is the formation of a pancreatic fistula, pancreatitis and a pancreatic pseudocyst, which usually manifests within 3 or 4 weeks after injury. Methods  The case records of seven children (4 male, 3 female) treated for blunt pancreatic injury in the department of pediatric surgery, University Hospital, Split were reviewed. Results  The treatment modalities were selected according to the grade of the pancreatic injury, hemodynamic status and associated injuries. Because all of the patients were classified as grade I or II according to the American Association for the Surgery of Trauma (AAST) classification, a conservative treatment was selected for all seven patients. In four patients the conservative treatment resulted in the total regression of the clinical, biochemical and radiological signs within four weeks (AAST grade I). In the other three patients, pancreatic pseudocysts arose within 3 or 4 weeks after the injury (AAST grade II). Conclusions  The status of the main pancreatic duct and the location of the pancreatic injury constitute the basis of the AAST scoring system. This scale should be used as a guide to selecting a surgical or conservative strategy. Based on these data, two factors appear to be the most important determinants of the treatment strategy for children with pancreatic injury: the grade of the pancreatic injury, which is determined according to the status of the main pancreatic duct and the clinical status of the patient.     

Therapeutic embolization of aneurysmal bone cyst

Results of therapeutic embolization of aneurysmal bone cysts in five patients are described. Transcatheter arterial embolization was performed with Ivalon and Gelfoam particles and Gianturco coils. The postembolization period was characterized by complete relief of pain and decrease in size of the aneurysmal bone cyst in all patients. In patients whose follow-up was longer than 12 months, sclerosis and recalcification of bone were present. There were no complications.     

Perineal endometriosis in episiotomy scar with anal sphincter involvement: report of two cases and review of the literature

Perineal endometriosis with anal sphincter involvement is a rare occurrence with only nine cases reported so far. Two such cases are presented, and the literature is reviewed. In presented cases, diagnosis was suspected at clinical exam. Anal manometry was performed in both cases and endoanal ultrasound in one case. Wide surgical excision of endometriotic mass together with part of external anal sphincter was carried out in both cases. The procedure was followed by anal sphincter reconstruction in an “overlapping” fashion in the first and “apposition” technique in the second case. Histopathologic tests confirmed endometriosis. The recovery was uneventful in both cases with excellent functional results. Two years after the operation, patients are asymptomatic and fully continent. According to the literature and our own experience, wide excision of endometrioma with primary sphincteroplasty seems to be the best chance of cure with satisfactory functional results and should be recommended.     

Pseudocyesis in peri- and postmenopausal women

Pseudocyesis or delusion of pregnancy is a rare psychopathological syndrome described in humans and higher mammals. We describe and discuss two cases of this rare syndrome in a 46-year perimenopausal and a 59-year old postmenopausal woman. Gynecologic, ultrasound examination, and biochemistry testing (β-HCG) confirm the diagnosis of nonexistent clinical and biochemical pregnancy. These examinations have the potential to confirm abdominal tumors, while psychiatric examinations generally reveal the psychic basis of the disease; which should be treated through team approach by both the psychiatrist and gynecologist. Additionally, special reference should be given to long-term psychiatric follow-up and management of the current mental stress and emotional problems by a combination of antipsychotics and psychotherapy, depending on each individual clinical picture.