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Possible Vitamin D/ Parathyroid Hormone Abnormality_1

51-year-old female with vitamin D deficiency and incompatibility between the PTH and vitamin D levels. She reports that as a child she had numerous cavities in her jaw, and her daughter also had multiple tooth fillings. She wonders whether the reason could be genetic abnormality.

 

Thrombotic thrombocytopenic purpura (TTP) secondary to Systemic Lupus Erythematosus (SLE)

15 years old patient presented with clinical syndrome of fever, fatigue, and diarrhea. Laboratory findings showed severe anemia with findings of microangiopathic hemolysis (schistocytes, hyperbilirubinemia, elevated LDH) and severe thrombocytopenia. He was later documented to have fluctuating ADAMTS13 activity that appeared to correlate with the hematologic abnormalities. He also had urinary findings of hematuria, moderate proteinuria, and creatinine as high as 1.4 mg/dL.

Cerebral Atrophy

A 52 year old began having difficulties with balance. His problems evolved and he had been seen by neurologists providing clinical evidence for a cerebellar motor syndrome. The most recent examination showed ataxia, dysarthria, nystagmus, dysphagia and hyperreflexia. Although the disease has progressed the patient is not severely disabled at this time. 

 

Nocturnal enuresis treated by Minirin

A 12 year old boy suffers from nocturnal enuresis. He underwent a specialist examination, who advised a therapy with Minirin. Under minimal dosage of Minirin enuresis stopped. But as soon as the treatment was interrupted, the enuresis showed up again.

Artificial Urinary Sphincter Reimplantation

81-year-old male that suffers from mixed incontinence with a prominent component of stress incontinence, following a transurethral procedure. Initially attempts were made to gain continence by a Lenzi's procedure, electro stimulation and various anticholinergis. All in all without satisfactory response. He underwent implantation of an artificial sphincter, the AMS AS 800 (AUS) that provided continence and the patient was content with the end result. The AUS was functioning fine until the patient underwent a road accident trauma, then a sphinteric prosthesis malfunction occurred.

Axonal and Demyelinative Sensorimotor Neuropathy

66-year-old male with a 6-year history of sensory symptoms in the feet and hands. He describes a sensation of cold and stinging in the feet; and numbness in the hands, especially at night. Nerve conduction and EMG demonstrated axonal and demyelinative sensorimotor neuropathy with neurogenic changes in muscles. Follow-up nerve conduction testing that was performed 2 years later showed similar findings.

Vesical Neoformations in Glandular Cystic Cystitis

58-year-old male diagnosed with sigmoid colon diverticulosis. In the past (2000&2008) he underwent trans urethral resections of bladder lesions which were diagnosed to be glandular cystitis cystica. Follow up cystoscopy performed lately revealed two new strawberry like lesions close to the bladder neck. Urine cytology was negative for malignant cells, pelvic ultrasound demonstrated a thickened bladder. The patient was offered another resection surgery.

Guillain-Barré Syndrome / Acute Myeloradiculoneuritis

45-year-old male who presented with acute onset of flaccid paraparesis more pronounced on the left, sensation of current shocks in both legs and sensory level from the umbilicus downwards. The symptoms have reached their pick within less than a day. On examination the left lower limb was plegic and the right lower limb was partially weak. EMG was interpreted as demyelinating sensorimotor neuropathy. MRI showed hyperintense signals at the dorsal terminal segment of the marrow consistent with myelitis.

Vitamin D Abnormality / Parathyroid Hormone Abnormality

51-year-old female with vitamin D deficiency among other medical problems: high blood pressure, episodes of transient syncope, and sleep apnea. In the expert's opinion frequent changes and discontinuations of drugs as well as big intervals between one dose to another, can be responsible for hypertensive crisis. Therefore the expert recommends to stop too frequent investigations , and instead focus on appropriate treatment, that should be combination of Angiotensin Receptor Blocker and diuretics.

Stage 4 Neuroblastoma – additional opinion

1.5-year-old male suffered from eye swelling. His MRI revealed expansive lesion of left lateral orbital wall origin, with compression on the lateral rectus muscle. Later he was hospitalized due to fever and vomiting in left orbital lesion, suspecting a metastatic neuroblastoma. His eye examination revealed exophthalmus of the eye with exophoria and light dysfunction of the lateral rectus. His biopsies were indicative of stroma-poor neuroblastoma.

Stage 4 Neuroblastoma

1.5-year-old male suffered from eye swelling. His MRI revealed expansive lesion of left lateral orbital wall origin, with compression on the lateral rectus muscle. Later he was hospitalized due to fever and vomiting in left orbital lesion, suspecting a metastatic neuroblastoma. His eye examination revealed exophthalmus of the eye with exophoria and light dysfunction of the lateral rectus. His biopsies were indicative of stroma-poor neuroblastoma.