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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.

Lichen planopilaris (follicular lichen planus) affecting the scalp

A 50 years old female complained about appearance of detached pruritic symptomatology affecting the trunk and the scalp. The patient carried out numerous dermatology specialist examinations on the following 3 years. Her allergy tests results were negative and she diagnosed with a seborrhoeic dermatitis affecting the scalp. As the patient did not achieve any result with the prescribed therapies ,she carried out biopsy. The biopsy was consistent with a “Lichen Planopilaris.”

Juvenile Arthritis with Systemic Onset (Stills Disease)

50-year-old male was diagnosed with Juvenile arthritis with systemic onset (Stills disease) after having symptoms of high fever, rashes and pain. He was treated with high doses of corticosteroids, but had two exacerbations in the last 2 years. In the current time he suffers of swelling of knee joints and hand joints, and occasionally a feeling of burning feet or cold feet. In the expert's opinion, the clinical description fit well with the diagnosis of adult onset systemic arthritis which manifestations are similar to the juvenile systemic arthritis.

Demyelinizing Disease

47-year-old female with a diagnosis of Multiple Sclerosis ,who suffers from progressive tetraparesis, more pronounced in the lower extremities. Her treatment included mitoxantrone and Interferon-beta treatment, both were discontinued because of side effects. Her movement difficulties, due to the left lower limb rigidity, are increasing progressively.

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.

Diffuse Intra-Axial expansive Lesion of the Enchephalic Trunk not surgically investigated_4

7-year-old boy with prodrome of right-sided and right face weakness, gait ataxia, and intermittent headaches. Head computed tomography demonstrated a tumor at the brainstem/posterior fossa, and then MRI confirmed a diffuse intrinsic pontine glioma (a typical brainstem glioma). Following initiation of dexamethasone (Decadron, steroid for vasogenic edema), the child has started experimental treatment with the medicine nimotuzumab to be followed with conventional radiotherapy.

Multiple Sclerosis

23-year-old female had episodes of hemiparesis, dysmetria and parenthesis underwent MRI that showed a demyelization process. After she was hospitalized with Left Retro-Bulbar Optic Neuritis, she started treatment with weekly injections of AVONEX (Interferon beta-1a). Now she is in good general health and asks about stopping the Anovex treatment. The expert answers that she shouldn't stop the treatment , because the purpose of the medications is to prevent exacerbations, that may leave neurologic residual dysfunction.

Multiple sclerosis in remission under Avonex treatment

A 23 year old female was diagnosed 7 years ago with multiple sclerosis. The patient had 4 acute attacks 7 years ago, and since then she has been treated by Avonex. The patient had no attacks since then, feel healthy and lead a normal healthy life as a busy university student. She enjoys sports several times a week, and there are no problems regarding her physical and mental function. Neurologically, the only reminiscence of her illness is a positive Babinsky sign in the left leg and a temporal blindness in the left eye.

Anaplastic Astrocytoma in the left temporal lobe

65-year-old male experienced loss of consciousness, and a CT scan showed a left temporal mass which was confirmed by MRI. The patient underwent Stereotacti biopsy of mass, and Histological examination gave a diagnosis of anaplastic astrocytoma. He started chemoradiation with fotemustine (nitrosourea alkylating agent). Repeated MRI showed progression with mass effect, mild uncal herniation and enlarging ventricles. He has stable expressive aphasia and hemisyndrome, lethargy and decreased motivation. His treatment was switched from phenobarbital to levetiracetam.

 

Metastatic Heteroplasia of the Lung

70-year-old male underwent epileptic seizures. A brain CAT scan showed a space occupying lesion with surrounding edema in his left frontal lobe. A subsequent MRI examination enabled the demonstration of four separated lesions in his brain consistent with metastases. A total body CAT scan demonstrated a mass in the right lung. The diagnosis of poorly differentiated squamous cell carcinoma of the lung was established by bronchoscopy and transbronchial biopsy. The patient was treated by brain irradiation.

Autoimmune hepatitis/cholangitis in patient with Crohn’s disease.

18 years old male. 4 months ago the patient was hospitalized due to epigastric abdominal pain, lack of appetite and weight loss. He was diagnosed with Crohn’s disease.
Hepatic biopsy, that was performed during this hospitslization, showed evidence of an overlap syndrome picture (cholangitis/hepatitis). He was initially treated with Cortisone and Azathioprine.

Diffuse Intra-Axial expansive Lesion of the Enchephalic Trunk

7-year-old boy presented with general asthenia, hand tremors, anxiety and episodes of diffuse headache. Exam noted facial asymmetry and symptoms progressed to vomiting. The patient had ataxia, dyarthria and facial weakness. CT and MRI revealed a expansile lesion of the brainstem and signs of obstructive hydrocephalus and possible leptomeningeal dissemination. Steriods improved clinical symptoms. The patient started an experimental treatment with Nimotuzumab, and Radiation therapy is planned to continue with Nimotuzumab.

Chronic relapsing, non progressing eruption of purpuric papulovesicular lesions

A 57 year old female complained about appearance of red to dark red pruritic bullous lesions . These lesions were, and still are, located on the legs from the knee to the ankles, and on the back of the feet. These manifestations appeared in variable phases during the next 4 years, with episodes of more numerous pustules appearing in some periods, and more isolated in other periods.

Psychomotor retardation due to spinal amyotrophy

10 months old, female. After normal birth (at the 40th week of pregnancy) and neonatal period, started to suffer from gastroesophageal reflux and recurrent respiratory infections, at times with broncospasm. In addition, psychomotor retardation was found and the young patient was assessed by a neurologist. The tests run (EMG and genetics for SMA) pointed to the diagnosis of Spinal Amyotrophy.
After hospitalization due to catarrhal bronchitis, the patient was discharged in good general conditions with recomendations for respiratory physiotherapy and neurological rehabilitation.

Feeding problems, vomiting and short stature in prematurely born child

The patient is a 21 month old female who was born prematurely (at almost 29 weeks) weighing only 650g. She was released after 3 months from NICU, when she was 41 weeks old, weight 2kg. Her parents did not have any problems till she was 5 months old. Her major problems since have been: poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled by an NG tube and later, food administration through a direct gastric tube via a gastrostomy.

Possible Anorexia, Vomiting, Failure to Gain Weight and Linear Growth Retardation

21-month-old female who was born at almost 29 weeks weighing only 650g and with birth height of 31 cm. Her major problems have been poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled by an NG tube and subsequently, food administration through a direct gastric tube via a gastrostomy. She gradually gained weight to the extent of being overweight for her height. Laboratory evaluation revealed low absolute numbers of neutrophils low lymphocyte count. Endocrynology and Genetics workup were normal.

Post-trauma tendinopathy of left shoulder

44-year-old male that sustained a contusion to his left shoulder while falling at his home. Following the fall he suffered severe pain. An ultrasound to the shoulder was interpreted as showing some changes in the ACJ and peritendinitis of the biceps brachi. The orthopedic surgeon that examined the patient about 2 weeks post injury had the impression of tendinopathy and requested an MRI that had indicated changes in signals in the ACJ and superior impingement of the supraspinatus and peritendinitis of the biceps. On the basis of these findings an arthroscopy was suggested.

Peripheral T-cell lymphoma

51-year-old male with past medical history that is remarkable for Sino-nasal adenocarcinoma which was resected 13 years ago, and a recurrent local tumor which was re-operated. Since late 2007, the patient has been noticed to have mild macrocytic anemia and leucopenia, and the hematologist thought it might represent a myelodysplastic syndrome.

Cluster headache

A 40 years old female has been suffering from cluster headache for the last 20 years. For the last 1.5 years it has been transformed from an episodic form to a chronic one. The patient reports an episodes of vertigo, for which she carried out otorhinolaryngology examination and brain NMR. On NMR was detected a periventricular lesion of about 1.2 cm, without mass effect. This lesion was probably present also 4 years ago, when the patient underwent another NMR.

Motor Neuropathy – additional opinion

53-year-old male with lower motor neuropathy affecting all 4 limbs. The neurologic examination showed left limb hyposthenia, left upper limb hypotrophy and diffuse fasciculations. The patient was diagnosed with “suspect motor neuron disease" and was treated with IVIG cycles with slight initial improvement, but later lack of response and worsening of the clinical condition.

IgG Multiple Myeloma

57-year-old male who was found to have back pain and hyperglobulinemia approximately. Marrow biopsy was consistent with IgG myeloma. He was treated with steroids and local radiotherapy with improvement in symptoms and a modest reduction in the M-component. He received melphalan-based autologous stem cell transplantation, which was complicated by reversible respiratory failure. Unfortunately, he relapsed and was treated with bortezomib and steroids for 6 cycles followed by thalidomide. The disease has responded to therapy.

Bronchiolitis Obliterans Organizing Pneumonia (BOOP)

16-year-old boy started to cough without any preceding febrile illness. With the persistent of the cough and the diagnostic procedure he was diagnosed as suffering from BOOP and corticosteroid was initiated. In the expert's opinion the diagnosis is post infectious hyperactive airway disease.

Left Knee Arthralgia

65-year-old female that suffers from pain in the left knee underwent examinations that showed femoral-tibial arthrotic manifestations, external degenerative meniscal tear and moderate joint effusion. A diagnosis of external degenerative meniscal tear was established. Further medical tests showed marked degeneration of the meniscal fibrocartilage, diffuse femoral-tibial arthrotic abnormalities, subchondral cysts and edema of the spongious bone, as well as rarefaction of the cartilage matrix, and manifestations of chondropathy.

Low back pain due to spondylosis and degenerative disc disease

35 years old male. 3 years ago an episode of lumbar pain. After an X-ray test and lumbar spine MNR a disc herniation was diagnosed. Later on, disorders showed up sporadically, and 15 days ago, as a result of backache recurrence, the patient decided to carry out diagnostic deepening performing a new lumbosacral magnetic resonance and an electromyographic examination.

Back Pain with Partial Sensory Leg Anesthesia

25-year-old male had an outbreak of sharp pain in the loin, and afterwards complained of partial sensory anesthesia in his leg. He has been given prescribed treatment that included blockades, magnetotherapy, and ultrasound massage with hydrocortison. He experienced back pain for the first time after lifting a heavy thing, and got a pain relief after taking a pain-killer and applying Finalgon ointment. After few months the pain reoccurred. The patient then got a MRT test and was prescribed Finalgon and Milgamma pills, but developed an allergy towards Milgamma.

Chronic Glomerulonephritis

42-year-old female with chronic renal insufficiency secondary to immune complex mediated glomerulonephropathy, hypertension, Type 2 diabetes mellitus, and hyperlipidemia. The recommended solution for her is kidney transplant. Possible causes of immune complex deposition disease include Cryoglobulinemia, IgA nephropathy, Membranous nephropathy, and Idiopathic immune complex mediated glomerulonephritis which is the diagnosis of exclusion.

Chronic Glomerulonephritis with immune complexes

42-year-old female with chronic renal insufficiency secondary to immune complex mediated glomerulonephropathy, hypertension, Type 2 diabetes mellitus, and hyperlipidemia. The recommended solution for her is kidney transplant.

Multiple Sclerosis_2

21-year-old female with an acute onset of a unilateral sixth cranial nerve deficit. Brain MRI showed at least a dozen white matter lesions, one of them contrast-enhancing. Sensory evoked potentials showed a bilateral increase in latency. Multiple sclerosis was diagnosed, and the patient was treated by corticosteroids, followed by improvement of symptoms. The first follow-up revealed no focal neurological signs with a history of a transitory unilateral lower limb hyposthenia. On the second visit, a horizonto-rotatory nystagmus and irregular paraesthesia in the right toes are documented.