Stefania Losi

Thyroid function and morphology in patients affected by Williams syndrome

Objective  To evaluate the prevalence of abnormalities of thyroid function and morphology in a cohort of patients with Williams syndrome (WS).

Final Height in Patients Perinatally Infected with the Human Immunodeficiency Virus

Introduction: Data concerning final height are completely lacking in human immunodeficiency virus (HIV)-infected children. Design: Retrospective evaluation of auxological data up to final height in a cohort of patients with perinatal HIV infection. Patients and Methods: In 95 Caucasian patients (57 females and 38 males, median age 17.5 years) the following data were evaluated as standard deviation (SD) score: prepubertal height (PrH), height velocity (HV), final height (FH), target height (TH), FH minus PrH, predicted adult height (PAH), FH minus PAH, and FH minus TH. Results: Patients showed a significantly reduced PrH and FH compared to their TH (p < 0.001), even if no difference was evidenced between PrH and FH. Age at puberty onset displayed a negative significant correlation with PrH (p = 0.002) and CD4+ cell percentage (p < 0.01). Finally, HV displayed a significant correlation with viremia (p = 0.001), but not with CD4+ cell percentage. Conclusions: HIV perinatally infected patients show a FH significantly reduced and not in accordance with TH. Our data seem to suggest that the losses in stature accumulated throughout the total period of childhood and adolescence may contribute to their reduced FH.

Oral Clonidine Provocative Test in the Diagnosis of Growth Hormone Deficiency in Childhood: Should We Make the Timing Uniform?

Introduction: Oral clonidine is one of the most frequent drugs used for the diagnosis of growth hormone deficiency (GHD), but the duration of the test, depending on which European centres use it, is not uniform and can vary from 120 to 150 min or even 180 min. Subjects and Methods: To standardize this test, evaluating the possibility to shorten it to 90 min, we investigated the response of GH to the oral clonidine test in 291 children evaluated for short stature (height <–2 SD). Of these, 164 were diagnosed as idiopathic short stature (ISS) and 127 as GHD. In these patients, we calculated: (1) the frequency distribution of the GH peaks to clonidine in GHD and in ISS at various times; (2) the percentage of GH peaks to clonidine before and after 90 min in all and in ISS children; (3) the percentage of the first GH value ≧10 ng/ml before 90 min and after 90 min in ISS. Results: GH peak distribution varied between 30 and 180 min, even though the vast majority of peaks occurred between 30 and 60 min. There was no significant difference (p > 0.05) in the peak distribution between ISS and GHD children. The percentages of GH peaks within 90 min were 92.1% in all children and 95.7% in ISS. If considering the first value of GH ≧10 ng/ml this last percentage reaches 96.3%. Conclusion: Our study suggests that the oral clonidine test can be administered for only 90 min without significantly changing its validity. This test should be standardized at 90 min in European protocols just as in those currently used in the USA in order to reduce the discomfort of patients and the cost of this diagnostic procedure.

Effect of treatment with cyproterone acetate on uterine bleeding at the beginning of GnRH analogue therapy in girls with idiopathic central precocious puberty.

Background: The flare-up effect of GnRH analogues may cause transient uterine bleeding in girls affected with idiopathic central precocious puberty (ICPP). Aims: To assess the incidence of endometrial bleeding and verify whether pretreatment with cyproterone acetate could counteract it. Methods: Fifty-four girls affected by ICPP were divided into 2 groups. The first group (30 girls) was treated with triptorelin (3.75 mg, i.m. injection) every 28 days. The second group (24 girls) was treated with cyproterone acetate and triptorelin: cyproterone acetate (50 mg/m2) was administered every day for 8 weeks, and triptorelin (3.75 mg) was commenced 4 weeks after starting the cyproterone, then the intramuscular injection of triptorelin was repeated every 28 days. Results: Eight of 54 girls (15%) had mild withdrawal bleeding. There were no differences in incidence between groups 1 and 2. Girls with pubertal uterus at pelvic ultrasound had a higher incidence of uterine bleeding than girls with infantile uterus (25 vs. 7%), but this difference was not significant. Conclusion: Co-administration of cyproterone acetate and GnRH analogues does not significantly decrease the incidence of uterine bleeding.

Acute motor axonal neuropathy in a Turner's syndrome patient with a ‘potential’ celiac disease

Dear Editor, Acute motor axonal neuropathy (AMAN) constitutes the axonal, purely motor subtype of Guillain-Barré syndrome (GBS) (Ho et al., 1995). Turner’s syndrome (TS) is characterized by the complete or partial absence of the second sex chromosome in a phenotypic female. In TS, an increased prevalence of autoantibodies, such as anti-thyroid, anti-gastric parietal cell, anti-endomysium (EMA), and anti-tissue transglutaminase (tTGA) antibodies, and of auto-immune diseases such as Hashimoto’s thyroiditis, type 1 diabetes mellitus (DM), and celiac disease (CD), has been reported in many studies (Larizza et al., 1999). We present an unusual case of potential CD in a TS patient who developed an AMAN associated with acute Coxsackie virus infection. A 12-year-old girl was diagnosed with TS (45.0) by chromosome analysis in February 1998. At that time, blood routine biochemistry and immunological profile were unremarkable. In February 2001, a second laboratory examination revealed serum EMA, tTGA IgA (8 U/ mL), and anti-gliadine IgG (3 U/mL) and IgA (64 U/mL) antibodies. Human leukocyte antigen (HLA) analysis disclosed the presence of HLA-DQ8. In February 2002, a duodenal biopsy showed increased intraepithelial lymphocytes, and a ‘potential’ Marsh type 1 CD was diagnosed (Marsh, 1992). Because Marsh type 1 lesions cannot be classified as CD (Working Group of European Society of Paediatric Gastroenterology and nutrition, 1990), the patient was not treated with a gluten-free diet. In August 2002, the patient had an episode of afebrile diarrhea, associated with diffuse muscular pain followed by increasing limb weakness that reached the nadir after 2 weeks. She was referred to the hospital in September 2002; neurological examination revealed weakness of the limbs (proximal muscles 4/5, distal muscles 3/5; Hughes grade 3) and normal deep-tendon reflexes. The plantar response was flexor. No sensory disturbance, ataxia, or autonomic nerve dysfunction was found. There was no evidence of cranial nerve involvement. Serology for Lyme disease, syphilis, and toxoplasma, rubella virus, cytomegalovirus, and herpes simplex (TORCH) was negative, but high anti-Coxsackie B virus antibodies (B1, B5, and B6) were present. A stool bacteriological examination was negative for Campylobacter jejuni (CJ) infection. Cerebrospinal fluid examination showed normal glucose concentration and white cell count 3 10/mm with a protein content of 127 mg/dL (normal <40 mg/dL). Microbiological culture was negative. Electrophysiology showed diffuse reduction of compound muscle action potential amplitudes, with normal motor conduction, and a poor persistency with increased dispersion of F waves (Table 1). Sensory conduction findings and neuromuscular transmission were normal. A focal motor conduction block was found at the right median nerve. Brain and spinal magnetic resonance imaging were normal, except for a light enhancement of the lumbar roots after the administration of gadolinium. High serum titers of IgG anti-GD1a (1 : 2800) and cross-reactive anti-sulfatide (1 : 10,000) and anti-phosphatidylinositol (1 : 10,000) antibodies were found by enzyme-linked immunosorbent assay (ELISA). On the basis of clinical and laboratory findings, diagnosis of AMAN was made (Ho et al., 1995). Therefore, the patient was treated with intravenous immunoglobulin (0.4 mg/kg/day) for 5 days. She gradually improved over the following weeks. At 6 months follow-up, the muscular weakness was in almost complete remission, but the electromyography (EMG) examination was substantially unchanged. The immunological study showed a significant decrease of anti-GD1a, anti-sulfatide, and anti-phosphatidylinositol antibodies, but a slight increase of EMA and tTGA (9.9 U/mL) antibodies was observed, along with the appearance of high titers of antibodies against DNA, microsomal (41.4 U/mL), and thyroglobulin (1253 U/ mL), with normal thyroid function. An EMG examination performed in April 2004 showed an improvement of motor conduction parameters. Address correspondence to: Dr. Sabrina Matà, Department of Neurology, Università di Medicina e Chirurgia, Viale Morgagni 85, 50139 Firenze, Italy. Tel: þ39-55-4279788; E-mail: masa@unifi.it Journal of the Peripheral Nervous System 10:210–212 (2005)

Amenorrhea after Endoscopic Third Ventriculostomy for a Failed Shunt in Spina Bifida: Case Report and Review of the Literature

Background: Secondary endoscopic third ventriculostomy (ETV) for the management of shunt failure may be efficacious, though it may be followed by more frequent complications (including endocrinological impairment, e.g. amenorrhea) compared to primary ETV. These complications are usually underreported in the literature. Aim: We report a case of secondary amenorrhea after ETV for the management of shunt failure in a young woman with hydrocephalus associated with myelomeningocele. Methods: A 25-year-old woman affected by hydrocephalus and myelomeningocele was admitted for secondary ETV for the management of shunt failure. The endoscopic procedure was preferred over shunt revision based on good results of secondary ETV, especially in patients with hydrocephalus associated with Chiari II malformation and spina bifida. Results: Despite the surgery being uneventful, the patient had early (postoperative seizure) and late (secondary amenorrhea) complications. In the early postoperative period, she received external ventricular drainage followed by VP shunt reimplantation 2 weeks later. There was no neurological morbidity, but 1 month after the ETV she reported secondary amenorrhea and weight gain. Laboratory investigations ruled out hyperprolactinemia, which had been treated with cabergoline administration with no efficacy since the patient was still without regular periods 1 year later. Conclusion: ETV may be followed by endocrinological complications like amenorrhea that are rarely reported.

Kawasaki disease in a girl with turner syndrome: a remarkable association

We describe a girl with Turner syndrome, a genetic disorder of the X chromosome in a phenotypic female at increased risk of autoimmune and immunological diseases, who developed Kawasaki disease at the age of four years.Given the possible relationship between these two disorders, we recommend suspecting Kawasaki disease in patients with Turner syndrome who present with persistent fever of unknown origin and who are not responsive to antibiotic therapy. Attention should be given to this phenomenon, as patients with Turner syndrome are themselves at higher risk of cardiovascular defects. Further studies are needed to better clarify this issue.