Bone pain and extremely low bone mineral density due to severe vitamin D deficiency in celiac disease

CASE REPORT: A 29-year-old wheelchair-bound woman was presented to us by the gastroenterologist with suspected osteomalacia. She had lived in the Netherlands all her life and was born of Moroccan parents. Her medical history revealed iron deficiency, growth retardation, and celiac disease, for which she was put on a gluten-free diet. She had progressive bone pain since 2 years, difficulty with walking, and about 15 kg weight loss. She had a short stature, scoliosis, and pronounced kyphosis of the spine and poor condition of her teeth. Laboratory results showed hypocalcemia, an immeasurable serum 25-hydroxyvitamin D level, and elevated parathyroid hormone and alkaline phosphatase levels. Spinal radiographs showed unsharp, low contrast vertebrae. Bone mineral density measurement at the lumbar spine and hip showed a T-score of -6.0 and -6.5, respectively. A bone scintigraphy showed multiple hotspots in ribs, sternum, mandible, and long bones. A duodenal biopsy revealed villous atrophy (Marsh 3C) and positive antibodies against endomysium, transglutaminase, and gliadin, compatible with active celiac disease. A bone biopsy showed severe osteomalacia but normal bone volume. She was treated with calcium intravenously and later orally. Furthermore, she was treated with high oral doses of vitamin D and a gluten-free diet. After a few weeks of treatment, her bone pain decreased, and her muscle strength improved. DISCUSSION: In this article, the pathophysiology and occurrence of osteomalacia as a complication of celiac disease are discussed. Low bone mineral density can point to osteomalacia as well as osteoporosis.     

Getting to the heart of the matter

A 60-year-old woman returned from visiting a cousin in Texas. For the past 6 weeks, she had not been feeling well and had lost almost 30 lb. She had frequent night sweats, although she did not recall having taken her temperature. Upon evaluation in the emergency department, results of physical examination were notable for cachexia and poor dentition. She was noted to have pyuria, and therapy was initiated for a urinary tract infection. Results of blood cultures performed the same day were positive for gram-positive cocci, and vancomycin therapy was initiated. She developed difficulty in seeing to her, left and a computed tomographic scan of the brain was performed; results were interpreted as negative. A transesophageal echocardiogram showed a 3-cm mass attached the posterior leaflet of the mitral valve. Initial interpretation was of an atrial myxoma. One of the authors was asked to consult on the case and noted bilateral conjunctival hemorrhages (Figure 1). Subsequently, the blood culture isolate was identified as Streptococcus mitis. Magnetic resonance imaging confirmed multiple cerebral infarcts consistent with embolic origin. The patient underwent emergent cardiac surgery, and her mitral valve was replaced with a bioprosthetic valve. She successfully completed a 4-week course of antibiotic therapy for her endocarditis.     

Skull Base Neurocytoma: Case Report and Review of the Literature of Extraventricular Neurocytomas

We report a rare skull base neurocytoma. A 44-year-old female with a history of focal seizure and progressive right-sided weakness sought treatment at an outside institution, where she underwent total resection of a "left medial sphenoid wing paraganglioma" in 1984. In 1995 after experiencing intense left-sided headaches for 3 weeks, the patient presented to our institution. Magnetic resonance imaging revealed a large local recurrence. She had deficits dating to her initial surgery, including moderate right-sided hemiparesis, complete left ophthalmoplegia, and left facial numbness.The patient underwent a craniotomy with extensive removal of the involved sphenoid bone and a subtotal resection of the tumor. Neurocytoma was diagnosed based on strong immunohistochemical staining for synaptophysin and no reactivity for glial fibrillary acidic protein. Postoperatively, her headaches resolved completely and her neurologic status remained at baseline. The residual tumor was treated with radiation therapy. After 5 years, she remains clinically and radiographically stable.Although typically located adjacent to the foramen of Monro, neurocytomas have now been reported in almost every subcompartment of the craniospinal axis. Finding neurocytomas in extraventricular locations may require revisiting the current theory that subependymal progenitor cells are the cells of origin for these tumors.     

A case of acoustic neurinoma presenting as subarachnoid hemorrhage

A case of acoustic neurinoma presenting with subarachnoid hemorrhage is reported. The patient, a 33-year-old female, had suffered from left hearing disturbance and tinnitus for several years prior to admission. She had sudden onset of severe headache in the left posterior auricular region, nausea and vomiting while watching a play-going. Immediately she was brought to a neighboring hospital by ambulance. Lumbar puncture demonstrated xanthochromic cerebrospinal fluid with high opening pressure of 380 mmH2O or more and she was diagnosed as having subarachnoid hemorrhage (SAH). As her level of consciousness was progressively lowered, she was transferred and admitted to our hospital. Findings of plain CT scan on admission suggested that she had a brainstem hemorrhage with acute obstructive hydrocephalus. After the immediate operation of ventricle drainage, she became alert. Two weeks after admission, contrast-enhanced CT scan, internal meatus tomography and vertebral angiography were performed because she complained of tinnitus and hearing loss of her left ear. A huge lt. C-P angle tumor was revealed and its total removal was carried out successfully after V-P shunt operation for her hydrocephalic condition. Histological examination showed a typical acoustic neurinoma. The postoperative course was uneventful only with a moderate facial paresis on her left side. Acute and severe subarachnoid hemorrhage of the posterior fossa in cases of acoustic neurinoma has been reported very sporadically. However, CT examination revealed such a rare case of acoustic neurinoma and lead us to a successful surgical treatment for the patient.     

Case of acute urinary retention as a result of non-steroidal anti-inflammatory drugs

Abstract:   A 19-year-old woman presented at our hospital with acute urinary retention in September 2005. She had experienced the same chief complaint twice previously. She had used non-steroidal anti-inflammatory drugs before acute urinary retention. The results of physical examinations were unremarkable, and her neurologic signs were not remarkable. The basic laboratory test values were all normal and a psychiatric assessment indicated that her symptoms were not psychogenic. Magnetic resonance imaging was carried out, but revealed only a slight bulging in the L3/L4/L5 disk. Water cystometry showed acontractile detrusor. We made a diagnosis of acute urinary retention as a result of non-steroidal anti-inflammatory drugs because of her use of such drugs before the development of symptoms on multiple occasions. This patient was regularly followed up as an outpatient, and she could void smoothly in February 2006. This is the first report which acute urinary retention associated with non-steroidal anti-inflammatory drugs in Japan.     

Adult identical twins with moyamoya disease

Adult identical twins with Moyamoya disease are reported. Laboratory examinations such as blood types, AB, Rh(+), HLA (human leucocytic antigen) analysis [AW26(9), A26(10), BW62(15), BW61(40), CW3], and finger prints, and hairs confirmed that two patients were identical twins. Both had normal serum immunoglobulin levels and no anti-DNA antibodies. Patient No. 1, a 39-year-old female, was admitted to our service with chief complaints of nausea, vomiting and left hemiparesis with sudden onset on Oct 31, 1981. The patient had an episode of tetraplegia that occurred suddenly at 4 years of her age and lasted about a week. Motor weakness had completely disappeared but moderate mental retardation remained. She had been employed just prior to this attack. CT and angiographic examinations revealed ventricular hemorrhage with Moyamoya disease, which had miliary aneurysm in the branch of the right posterior choroidal artery. The operation of encephalomyosynangiosis was performed on her left hemisphere. The postoperative course was uneventful. Patient No. 2, the twin sister of patient No. 1, was in good health and mental state until 19 years of her age, when she suddenly lost consciousness and developed hemiparesis. After this attack, her motor function had recovered well. However, mental ability gradually deteriorated and she was admitted to a psychiatric ward. CT examination and angiographic studies were performed on Oct 12, 1982, and she was diagnosed as having Moyamoya disease.(ABSTRACT TRUNCATED AT 250 WORDS)     

A case of ruptured and unruptured developing cerebral aneurysms at the bilateral M2 bifurcations five years after surgery for ruptured aneurysm at the end of the azygos anterior cerebral artery

A 36-year-old woman with 4 cerebral aneurysms at unusual sites including bilateral M2 bifurcation aneurysms is reported. She had been in good health in the previous 5 years since the treatment for a ruptured aneurysm at the end of the azygos anterior cerebral artery when she was 31 years old. Five years later, she became comatose with a huge hematoma in the right temporal lobe due to the rupture of the aneurysm at the right M2 bifurcation, which had been very small 5 years ago. She underwent an emergent clipping operation, and then she became alert with motor weakness extremities of on her left-side. Postoperative angiograms revealed a de novo aneurysm at the left M2 bifurcation and an aneurysm at the origin of the lenticulostriate artery, which has remained unchanged for 5 years. An aneurysm at the M2 bifurcation is rare, especially when it is situated bilaterally at the mirror sites. To detect de novo aneurysms, postoperative angiographical follow-up should be considered in patients with multiple aneurysms and in young patients.     

A myxoid liposarcoma in the lower leg, with a large intra-abdominal metastasis

We report a patient with a large intra-abdominal metastasis of myxoid liposarcoma. The patient first noticed an asymptomatic mass in her left leg in 1985, when she was 20 years old. The mass was left untouched until she realized its rapid growth and consulted a local doctor in 1994. After needle biopsy, she was histologically diagnosed as having a myxoid liposarcoma. She disagreed with the recommendation for an amputation below the knee, made at another hospital. A marginal resection was performed as an alternative treatment. She subsequently underwent three more marginal resections and four intra-lesional resections for repeated local recurrences. In 1997, an abdominal computed tomography scan revealed the presence of multiple intra-abdominal metastases, and the lesions were judged to be inoperable. Ileus and respiratory distress, caused by compression by the abdominal mass, gradually worsened, and she died in 1999, at the age of 34. The girth of her abdomen was 135 cm at the time of death. Received: May 11, 2000 / Accepted: September 12, 2000     

Synchronized hemifacial spasm induced by sound stimulation

A 42-year-old woman whose hemifacial spasm develops not only involuntarily but also synchronously to the sound stimulation to the left ear is presented. She had about 10 years history of left hemifacial spasm which occurred only involuntarily, and she was treated successfully by microvascular decompression method on June 1982. She had been uneventful and free from facial spasm until around January 1983, about 7 months after the first surgery, when her hemifacial spasm recurred and interestingly enough, this spasm started to occur not only involuntary but also synchronously to stimulation of the sound. On her electromyography (EMG) of the face, high amplitude discharge were noted sporadically during her facial muscle twitching, but more constant and regular high amplitude discharge on EMG were also evoked invariably and synchronously with the sound stimulation which was induced by 90 dB click sound and once this sound stimulation discontinued her facial muscle twitching ceased and abnormal discharge of EMG which appeared with sound stimulation disappeared instantly. On March 18, 1983, her left posterior fossa was explored and another angled artery was found compressing the facial nerve just at the root entry zone, more proximally than the previous site where the nerve was found compressed and decompressed at the first surgery. After complete replacement of this offending artery from the nerve, her facial spasm disappeared completely and was never evoked by the sound stimulation. Her postoperative EMG revealed no abnormal discharges at all after the sound stimulation by click sound in the ear.(ABSTRACT TRUNCATED AT 250 WORDS)     

Obstructive putty-like cast of the biliary tree

A 62-year-old woman was presented at the emergency department with cholangiosepsis. She had a history of liver metastases for which she had a left hemihepatectomy and loco regional recurrence at the liver hilum for which she received chemoradiation therapy MR-imaging of the liver showed multiple intrahepatic fluid collections/abscesses, together with significantly dilated intrahepatic bile ducts. For her significant hepatic function impairment she received antibiotic treatment and percutaneous drainage. The differential diagnosis was local tumor recurrence or post radiation fibrosis causing outflow obstruction centrally in the liver hilum. During the admission the serum bilirubin values kept rising. During surgery surgeons decided to perform a hepatotomy and connect a loop of the jejunum directly on the liver parenchyma, in order to allow better drainage. Intra operatively, after the hepatotomy, we encountered green-brownisch putty-like material. By traction a ‘cast’ of a large part of the biliary tree was removed.     

Multiple lesions of cutaneous focal mucinosis in a teenager

A 19-year-old Hispanic woman presented to our clinic with a chief complaint of multiple pink papules on her face (Figure 1). The lesions were asymptomatic, had appeared several years before her consultation, and had remained stable in size. Similar lesions on her trunk and extremities had spontaneously resolved before presentation. She had no significant medical history and was not on any medications. Cutaneous examination was remarkable for a few scattered, well-demarcated, slightly raised pink papules and plaques with no scale, ranging from 0.5 to 1 cm in diameter. The lesions were distributed on the right cheek, right temple, left lower eyelid, and neck area. The rest of the cutaneous examination was unremarkable. A punch biopsy was performed from a lesion near the left premandibular area. Hematoxylin and eosin staining of the biopsy specimen revealed superficial perivascular dermatitis with a slight increase in the number of fibroblasts (Figure 2). Colloidal iron staining was diffusely positive with replacement of collagen with mucinous material in the dermal layer (Figure 3). Laboratory values for a complete blood cell count, metabolic panel, serum protein electrophoresis, urine protein electrophoresis, thyroid-stimulating hormone, and antinuclear antibody were within normal limits. The patient was diagnosed with cutaneous focal mucinosis. Because of cosmetic concerns, the patient declined surgical excision and intralesional corticosteroid injections. A 4-month trial of topical tacrolimus 0.1% ointment was ineffective.     

Granular parakeratosis: response to calcipotriene and brief review of current therapeutic options

A 34-year-old Hispanic woman presented with an 18-month history of an intermittent, asymptomatic eruption that began on her left axilla after using a depilatory cream containing corn starch and thioglycolate (Figure 1A). The eruption then spread to her right axilla and lower abdomen (Figure 1B). She reported worsening with deodorant use, but had been using the same deodorant for many years and had continued using it twice a day. Treatment with topical corticosteroids had not helped. The patient coincidentally had been started on isotretinoin 5 months previously for acne, but it had no effect on her axillary or abdominal lesions. Physical examination revealed multiple dark brown and black papules with a "stuck-on" appearance in both axillae and on the lower right abdomen. A biopsy of the left axilla revealed a thickened parakeratotic stratum corneum with retention of keratohyalin granules within the parakeratoric cells, which is considered diagnostic of granular parakeratosis (Figure 2). The patient was prescribed calcipotriene cream twice daily. After 2 weeks, she had complete resolution of the axillary lesions, but the abdominal lesions persisted. She has since had mild recurrences while using calcipotriene.     

"Eruptive" facial syringomas: an inflammatory skin reaction?

A 26-year-old woman exhibited multiple, 1- to 3-mm eruptive asymptomatic papules, symmetrically distributed on the face. None of her family members had similar lesions. The papules first appeared in 2006 and gradually increased in number, particularly during her first pregnancy. She stated that the development of lesions was preceded by dermatitis. Physical examination revealed many flesh-colored or slightly reddish, smooth-surfaced papules around the eyes, both cheeks, and temples (Figure 1 and Figure 2). The differential diagnosis included syringomas in an atypical location, cutaneous sarcoidosis, and periorificial dermatitis. Histopathologic examinations revealed aggregation of small tubular structures lined by two rows of epithelial cells, most of which were characterized by comma-like tails, giving them a tadpole shape. They were embedded in a fibrous connective tissue stroma in the dermis. These histopathologic findings were consistent with syringoma (Figure 3).     

Deepening coma in an epileptic patient: the missing link to the urea cycle. Hyperammonaemic metabolic encephalopathy.

A 57-year-old woman was admitted because of dizziness, nauseaand vomiting. From the age of 15, she had suffered from recurrentgeneralized tonic clonic seizures for which multiple antiepilepticdrugs were prescribed. She was a withdrawn, apathetic individualwith borderline mental retardation. She had been seizure freefor the past 5 years prior to her present admission being maintainedon carbamazepine 1200 mg, phenobarbital 200 mg and diazepam30 mg, daily. On examination, she was haemodynamically stable.Laboratory data revealed a serum sodium of 129 mEq/l and carbamazepinelevel of 16.4 µg/ml     

Glomangiopericytoma causing oncogenic osteomalacia

A 47-year-old woman suffered from gait disturbance due to back pain and muscle weakness. Laboratory data showed serum hypophosphatemia, elevated alkaline phosphatase, and a normal level of ionized calcium. Radiological examinations revealed multiple pathologic fractures in the ribs and pubic rami. She had had no episode of familial or any other notable disorder, and so she was initially treated with medication for adult-onset osteomalacia. However, 19 years later (when she was 66 years old), she noticed a soft-tissue tumor in her buttock. The tumor was excised. The histological features were those of glomangiopericytoma characterized by both glomus tumor-like and hemangiopericytoma-like structures. After removal of the tumor, her symptoms disappeared immediately. Laboratory data normalized 8 months later. To our knowledge, this is the first report of oncogenic osteomalacia caused by glomangiopericytoma. Received: 3 May 1999     

A case of Maffucci's syndrome with intracranial chondroma (author's transl)

A rare case of Maffucci's syndrome with intracranial chondroma was reported and the literature reviewed. A 16-year-old female high-school student was reffered to our service with 2 month history of diplopia and headache. She had been noticed to have multiple subcutaneous blueish nodules in the lower extremities and multiple body deformities in the four extremities since 6 months old. A biopsy of a skin lesion revealed cavernous hemangioma with calcified thrombi. Another biopsy from the deformed right femur showed it to be enchondroma. Skull series, carotid and vertebral arteriographies, and CT scan revealed a left parasellar mass, which had brought her sensory impairment of the left V1 and the left abducens palsy. The biopsy of the extradural mass in the medial portion of the left middle fossa proved it to be chondroma identical with the right femur lesion. So far as one year postoperative follow-up, she has been doing well with the postoperative sequela of mild left oculomotor paresis, having no evidence of malignant degeneration.     

Systemic lupus erythematosus complicated by HELLP syndrome

We describe a pregnant woman with systemic lupus erythematosus, complicated by severe pre-eclampsia (the HELLP syndrome) and adult respiratory distress syndrome, who died in the intensive care unit. A 33-year-old multigravid woman was referred to our university hospital at 17 weeks' gestation because of an exacerbation of systemic lupus erythematosus with elevated liver enzymes and thrombocytopenia. At the time of admission, on physical examination she had revealed a butterfly rash over the cheeks, purpura, acute synovitis and oedema of the legs. Her blood pressure was 180/100 mmHg. The initial laboratory tests and immunological evaluation confirmed active systemic lupus erythematosus complicated by severe pre-eclampsia. One week after admission, she became suddenly confused and had a convulsion with Glascow Coma Score 10 (3+3+4). Therapeutic abortion was induced in the Obstetric Department. She was transferred to the intensive care unit with a diagnosis of respiratory failure, probably due to acute respiratory distress syndrome, and was intubated and ventilated. Dialysis was instituted on two consecutive days from the eighth day. In total she received over 20 units of red blood cells and large quantities of fresh frozen plasma and platelets. On the 24th day her Glascow Coma Score was 2 (1+1+E) and severe hypotension developed. She died from worsening acute respiratory distress syndrome on the 25th day. Women with systemic lupus erythematosus should be advised to become pregnant when the disease is inactive and should be observed at an appropriate centre using a multidisciplinary approach. Therapeutic abortion is an acceptable option if active nephropathy and severe pre-eclampsia are present in early pregnancy.     

One pedigree of "moyamoya" disease

One familial case of "moyamoya" disease affecting three patients is reported. The patient in Case 1 was a 28-year-old female. She had suffered from motor weakness of the right limbs in her infantile period. She visited our hospital because of sudden headache and left motor weakness associated with nausea and vomiting. On admission, CT scan revealed cerebral hemorrhage in the right caudate nucleus with intraventricular clots and infarction in the left parietal lobe. Angiography showed stenosis of the left ICA terminal portion and occlusion of the right side, with moyamoya vessels in the basal area. The patient in Case 2 was a 54-year-old female, who was the mother of Case 1. After an operation for acute upper intestinal bleeding, she suffered from cerebral infarction. CT scan revealed large low density areas in the territory of the bilateral MCA. Angiography showed stenosis of the bilateral ICA terminal portions, occlusion of the right MCA, stenosis of the left MCA, and moyamoya vessels in the basal area. The patient in Case 3 was a 40-year-old female, who was a younger sister of Case 2. She had a convulsive attack in her infantile period. She visited our hospital because of gradually worsening headache. CT scan revealed multiple infarctions in the left paraventricle, the right parieto-occipital and occipital lobe. Angiography showed occlusion of the bilateral ICA terminals with moyamoya vessels in the basal and the ethmoidal areas. The patient in Case 2 died immediately. Surgery for reconstruction of hemodynamics was performed in Case 1 and 3.(ABSTRACT TRUNCATED AT 250 WORDS)     

Pseudoxanthoma elasticum: clinical, histologic, and genetic studies--a report of two sisters

CASE 1: A 24-year-old black woman was referred to our clinic in September 1999 by the department of dermatology. She was referred to confirm the diagnosis of pseudoxanthoma elasticum (PXE). Her medical history was normal. Dermatologic examination revealed confluent papules that gave the skin a "plucked chicken" appearance on the flexural surfaces in the neck, axillae, clavicle, thigh, and periumbilical area (Figure 1). The patient stated that the changes in her skin had begun in the periumbilical region at about 5 years of age and had since been slowly progressive. Physical examination showed brownish black pigmentation on the left side of the face, left eyelid, and left sclera, which was diagnosed as Nevus of Ota (Figure 2). Her visual acuity was 20/10 in both eyes, with no afferent pupillary defect. Intraocular pressure in both eyes was normal. Slit lamp examination showed no abnormalities. Findings from fundus examination revealed angioid streaks that formed an incomplete ring around the optic disc and anteriorly radiated toward the equator of the globe, multiple calcified drusen-like structures, and "peau d'orange" changes. Skin biopsy (skin tissue from the neck) was taken and the diagnosis of PXE was confirmed. Histopathologic findings revealed calcification of the elastic fibers and abnormalities of the collagen (Figure 3). The patient was not known to have sickle cell anemia or sickle cell trait, and her blood pressure levels had never elevated. Other systemic causes of angioid streaks were excluded by findings from extensive laboratory examination. Her relatives were asked to come in for examination but lived far away. One of the patient's sisters lived in Kinshasa, Africa, however, and is presented in case 2. CASE 2: The 27-year-old sister of the previous patient was examined on April 19, 2000. At examination, she was found to have PXE. Her medical history was significant for systemic hypertension since 1998 and genital hemorrhage. She underwent an ablation of a cyst of her left ovary in 1988. Her ocular history was unremarkable. On physical examination, raised (yellow) papillary lesions, typical of pseudoxanthoma, were found on the neck, axillae, clavicle, thigh, and periumbilical regions. External and anterior segment examinations (of her eyes) were unremarkable. She was found to have a best-corrected visual acuity of 20/10 in both eyes. Intraocular pressure was normal. Funduscopy revealed bilateral angioid streaks, crystalline bodies, and "peau d'orange," but to a lesser extent than in her sister. In both cases, after informed consent, peripheral blood cells were taken and sent for extraction of DNA. Analysis was performed but could not demonstrate the known gene defects of PXE.