Skip to main content
Pancytopenia of uncertain pathogenesis

74-year-old female evaluated for pancytopenia of unknown etiology, which required blood transfusions. Bone marrow aspirate and biopsy showed a hypocellular bone marrow with trilineage maturation. The treatment include immunosuppressive agents and erythropoietin.

PANCYTOPENIA OF UNKNOWN ETIOLOGY

74-year-old female evaluated for pancytopenia of unknown etiology, which required blood transfusions. Bone marrow aspirate and biopsy showed a hypocellular bone marrow with trilineage maturation. The treatment include immunosuppressive agents and erythropoietin.

ABO-incompatible (ABOI) renal transplantation

The expert answers various questions referred to him regarding ABO-incompatible (ABOI) renal transplantation without splenectomy, using antigen-specific immunoadsorption (IA) and rituximab.

 

Motor Neuron Disease – additional opinion

71-year-old female developed progressive dysarthria and dysphagia. She underwent multiple investigations and started Rilutek. Her EMG study does not meet published criteria for the electrophysiologic diagnosis of motor neuron disease. In the expert's opinion, a definite diagnosis is not possible at the present time, and there would be utility in repeating clinical and electrophysiologic testing. The expert also recommends to perform pulmonary function testing.

Severe right coronary artery stenosis

49-year-old-male complained of a feeling of oppression behind the sternum, always when there was emotional stress. His coronary CT showed Severe high level stenosis with wall irregularities of the right coronary artery. The treatment options are coronary revascularization procedure versus optimized pharmacologic management.

Motor Neuron Disease

71-year-old female developed progressive dysarthria and dysphagia. Her doctor describes her speech difficulty as “Spastic dysarthria with slow and nasal speech" and noticed decreased mobility in the tongue and palate. She underwent multiple investigations and started Rilutek. The differential diagnosis of isolated swallowing and speaking difficulties include: Early motor neuron disease, Cranial neuropathies, Myopathies, Neuromuscular junction disorders and Neurodegenerative movement disorders.

Motor Neuron Disease – another opinion

72-year-old female developed progressive dysarthria and dysphagia. Her doctor describes her speech difficulty as “Spastic dysarthria with slow and nasal speech" and noticed decreased mobility in the tongue and palate. She underwent multiple investigations and started Rilutek. Since there is no biologic marker for ALS, the expert suggests further testing that is focused on trying to rule out other disorders and show diffuse lower motor neuron involvement

Symptomatic Pancytopenia

74-year-old male has suffered over six months from pancytopenia. The main problem has been the symptomatic anemia, which required blood transfusions. Bone marrow aspiration revealed some myelodysplasia, and immune therapy has been prescribed. The expert suggests possible differential diagnosis of pancytopenia and recommends to establish a definite diagnosis before discussing treatment.

Symptomatic Pancytopenia- Additional opinion

74-year-old male suffers from pancytopenia and symptomatic anemia. Bone marrow aspiration revealed some myelodysplasia, and the patient started immune therapy. He continues to require repeated blood transfusions. The expert recommends to complete the diagnostic workup. If no other disease is diagnosed than it can be assumed that the patient carries the diagnosis of MDS hypoplastic type.

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.”

Multiple Sclerosis (MS)

41 year-old male was recently diagnosed as having multiple sclerosis (MS) after episodes of leg and shoulder weakness and parasthesis. Lately he experiences dizziness. His MRI showed several demyelinating lesions, other ancillary tests showed demyelinating damage to the auditory and visual pathway. Currently he has no functional or sensorial deficiencies. He was offered several immunomodulatory treatment options: Rebif, Betaferon and Copaxone, and asks about their pros, cons and complications, and about the differential diagnosis.

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.

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.

Partial seizures in 4 years old girl

A 4 year old girl with normal birth history and development with the exception of an episode of maternal hemiplegia during pregnancy. There is no significant family history of any neurological issues. Her medical history is unremarkable except for celiac disease which is treated with a gluten-free diet.
An half a year ago she developed scarlet fever and began to have episodes of right hand tremor lasting 6 seconds with no alteration of consciousness. One month later she had more events and was taken to the local ED where an EEG was performed.

Glioblastoma of the right temporal occipital region

A 61 year old male who presented with an epileptic episode was evaluated. A temporo-parietal-occipito mass was detected on MRI and PET CT. A follow-up MRI one year later showed progression of the lesion. One month later he had a craniotomy and what seems to be a partial removel of the mass. The pathology revealed glioblastoma. He was scheduled for radiotherapy two months later. The post operative MRI showed post operative changes including blood at the surgical cavity. However, there is a significant residual tumor present which is enhancing following administration of contrast.

Mild Alzheimer’s disease – additional opinion

78-year-old male was diagnosed with possible mild Alzheimer’s disease. Medical history suggests a condition running a slow but steadily deteriorating course characterized by apathy as well as by impairment of memory, word finding difficulties and reduced vocabulary, impaired ability to make calculation and handle finances and difficulties in managing house work and going outside unsupervised. An episode with characteristics of delirium in the past is described as well. The neuropsychological evaluation describes moderate dementia.

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.

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.

 

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.

Neuropathic Pain with Neuralgic Features

70-year-old female with a history of diabetes mellitus began experiencing pain in the legs. In the last few months the pain localized in her inner thighs. It is burning in nature, with sudden intense attacks, and is consistent with neuropathic pain with neuralgic features. The expert suggests possible diagnosis, further investigation and symptomatic treatment. In his opinion, it is likely that the cause of the symptoms is peripheral neuropathy or radiculopathy.

Chronic Pain in the Lower Rib Cage – Suspected Intercostal Neurinoma

67-year-old male began to complain of chronic pain in the left lower rib cage. The pain is stitch, ever-present, dull and localized at the level of his left last rib, and became slightly worse in the last 2 years. Recent image findings: MRI - "Ovalish hypoechogenic solid formation, Ultra sound - "Suspected intercostal neurinoma at ribs 10, 11 and 12.

Small Cell Neuroendocrine Tumor of the Cervix – additional opinion

36-year-old otherwise healthy female presented with an atypical pap smear. Biopsy of cervix revealed poorly Differentiated Neuroendocrine Carcinoma. Immunohistochemical staining showed the cells positive for NSE, SYN, CHR, and 90% positive for Ki67 (proliferative index). The findings of the PET-FDG test showed pathological absorption of FDG as a primary tumor of the cervix, towards the left side of the body. Moreover, evidence is seen of nodal metastatic spread in the retroperitoneum and pelvis, mainly on the left.

Inflammatory Demyelinizing Disease

28-year old female had a sudden visus decrease. Her brain MRI showed several myelin lesions and she was diagnosed with Inflammatory Demyelinizing Disease. Because of her Hodgkin’s lymphoma history it is recommended to implement preventive therapy only if another episode consistent with MS will occur.