[Dropped head syndrome: report of two cases]. / Le syndrome de la tête tombante: à propos de deux cas.

PURPOSE: The dropped head syndrome is characterized by an abnormal bending of the head to the body, mainly affecting old people. It corresponds to an alteration of the cervical extensor muscles, revealing in some cases a neuromuscular disease. In some cases, the etiology of this syndrome remains unknown. EXEGESIS: We report here two cases with dropped head syndrome. The first clinical case concerned a 78-year old man, presenting a dropped head syndrome revealing a myasthenia. The syndrome disappeared with specific therapy. The second clinical case was a dropped head syndrome developed in the context of severe depressive syndrome in a 71-year old woman. The etiological screening did not reveal any underlying disease. Counteracting the syndrome was successfully obtained with early physiotherapy. CONCLUSION: The dropped head syndrome can reveal a general disease such as myasthenia or amyotrophic lateral sclerosis. Therefore, investigation needs first to eliminate underlying diseases. If no etiology is found, the dropped head syndrome is considered of an unknown neuromuscular origin or a psychosomatic disease. In this latter case, physiotherapy may be beneficial.

Comparative efficacy and safety study of etidronate and alendronate in postmenopausal osteoporosis. effect of adding hormone replacement therapy.

OBJECTIVES: To compare the efficacy and safety of etidronate and alendronate in patients with postmenopausal osteoporosis and to assess the efficacy of either bisphosphonate in combination with hormone replacement therapy (HRT). PATIENTS AND METHODS: In this pragmatic study, the main efficacy criterion was the mean annual change in bone mineral density (BMD). Patients who had a past or current history of etidronate or alendronate treatment for postmenopausal osteoporosis with at least 18 months follow-up and an evaluation in 1999 were eligible. Recruitment was in an outpatient clinic with a special focus on metabolic bone diseases. Osteoporosis was defined as at least one low-energy fracture or as a lumbar spine or femoral neck BMD decrease to at least 2.5 SD below the mean in young women. HRT was not an exclusion criterion provided treatment duration was longer than 1 year. Etidronate was given cyclically (14-day courses in a dosage of 400 mg/d separated by 76-day intervals with calcium and vitamin D supplementation) and alendronate was given daily in a dosage of 10 mg/d. RESULTS: Of the 99 patients who met our inclusion criteria, 53 received etidronate (including 23 on HRT) and 46 alendronate (18 on HRT). Repeat BMD measurements were obtained in 88 patients, including 11 who stopped their bisphosphonate therapy within the first year of use because of adverse events. Lumbar spine BMD (mean +/- SD) increased significantly both in the etidronate group (+2.1% +/- 0.7%/year) and in the alendronate group (+5.3% +/- 0.9%/year). The increase was significantly greater with alendronate (P< 0.01). The lumbar spine BMD increase was largest in the patients on alendronate and HRT (+6.5% +/- 1.4%/year) and was smallest (and nonsignificant) in the patients on etidronate without HRT (+ 1.2% +/- 0.8%). Femoral neck BMD showed no significant changes in any group. In the intention-to-treat analysis, fractures occurred in 12 etidronate patients (22.6%) and six (13.0%) alendronate patients (nonsignificant). Adverse events requiring bisphosphonate discontinuation before the scheduled date of the follow-up BMD measurement occurred in one patient (1.9%) in the etidronate group (generalized osteomalacia) and in ten patients (21.7%) in the alendronate group (upper or lower gastrointestinal tract symptoms in six and four patients, respectively; P < 0.01). CONCLUSION: Both etidronate and alendronate significantly increased lumbar BMD, but the effect was significantly more marked with alendronate. Conversely, adverse effects, most notably gastrointestinal symptoms, were more common with alendronate, so that premature treatment discontinuation because of adverse events were more common in the alendronate group. Both differences should be taken into account when selecting the best drug for a patient with postmenopausal osteoporosis.

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 11 families affected by various forms of hypophosphatasia. Nineteen distinct mutations were found, 7 of which were previously reported. Eleven of the 12 new mutations were missense mutations (Y11C, A34V, R54H, R135H, N194D, G203V, E218G, D277Y, F310G, A382S, V406A), the last one (998-1G>T) was a mutation affecting acceptor splice site.

Foramen magnum syndrome secondary to calcium pyrophosphate crystal deposition in the transverse ligament of the atlas.

STUDY DESIGN: This report illustrates two rare cases of foramen magnum syndrome caused by a retro-odontoid mass in which calcium pyrophosphate dihydrate crystals were found. OBJECTIVES: To analyze the preoperative studies and the diagnostic criteria and to discuss the surgical treatment. The present cases will be compared with previous ones described in the literature. SUMMARY OF BACKGROUND DATA: Deposition of calcium pyrophosphate dihydrate crystals occurs into the fibrous and hyaline cartilage of the joints and intervertebral discs of the spine. Half of the patients known to have a chondrocalcinosis had asymptomatic calcification in the odontoid region. Ten patients were published in the literature as having a spinal cord syndrome secondary to calcium pyrophosphate dihydrate deposition in the odontoid region. METHODS: In both cases the preoperative studies were analyzed, and the retro-odontoid mass was resected and histologically examined. Both had an anterior transoral approach and have been followed for 1 year. RESULTS: According to the preoperative radiographs the diagnosis was suspected and confirmed histologically. Transoral approach was done with no need in either case for a posterior stabilization. CONCLUSIONS: Compression of the spinal cord by calcium pyrophosphate dihydrate deposition may occur. The preoperative diagnosis may be highly suspected after radiographic study and histologically confirmed. Transoral resection is the treatment of choice. Posterior stabilization should be considered only in cases of craniovertebral instability.