Recurring short duration losses of consciousness, compressions, other pathology? Results: Normal internal and external subarachnoid spaces, which are corresponding to age. On the left extra axial paramedian are, in close relation to the rostral falx, is a cerebrospinal intense, highly defined and possible cystic structure, which is also represented on the T2 emphasized sequences.
The boundary shows a partial signal dissolution, which may well correspond to the hemosiderin. The lesion shows a maximal expansion of 20 mm, and perifocally in the neighboring brain tissue of the left gyrus frontalis superior is a discrete, possibly gliotic signal increase and a slight atrophy of the overlying cortex. The cerebellum, the brain stem and corpus collossum are all normal. The remaining cerebral parenchyma shows no signal increases on all sequences.
After infusion of the contrast medium, normal contrasts of the vessels, and no pathological contrast medium deposits are evident, in particular not in the area of the above mentioned lesion, which after the infusion of the contrast medium was additionally examined for fat saturation and high resolution. The partially jointly mapped NNFI are positioned normally and also normally aerated. Ad. 1: about a year and half ago this patient went to neurologist due to vestibular vertigo. At that time he described various episodes of blacking out and some single drop attack like episodes.
These unspecific symptoms are accompanied by a generalized fatigue, connected to a loss of balance. After an unsuccessful clarification by the neurologist, an ear, nose and throat specialist, and internists, at the end of March 07, you requested a clarification of a possible metabolic cause and then referred the patient to a nutritionist. What was noticeable, are that the primary described symptoms of fatigue and weakness are connected to erectile dysfunction, as well as a loss of libido and that the nonspecific dizziness was in connection with prior alcohol consumption.
The patient describes persistent weakness, abdominal pain and recurring temporary loss of consciousness symptoms during the day after only a minor consumption of alcohol (which after two months he totally stopped consuming alcohol) without any improvements of the symptoms. After a bland clinical exam (aside from a small right submandibular lymphnode) during the chemical lab test analysis, a significantly increased ferritin level was noted. A second check of this on 18 April 07, showed an increased iron level and a transferrin saturation of 82 %, as well as another increased ferritin level.
Thought the liver function parameters were negative, a clinical and chemical lab suspicion arose pointing to a hereditary hemochromatosis. Page 6 of original Mister McShee thus agreed to molecular diagnostics on 18 April 07 to determine the two main mutations of transferrin gene. This test in turn confirmed both C282Y mutations. Thus, a liver biopsy is not needed to attain a diagnosis. Procedure: 1. the patient was informed via the telephone of the hereditary hemochromatosis 2. the majority of the described symptoms are explained by this diagnosis, yet the neurological episodes are atypical.
3. Two head MRI’s have been performed, not showing any external iron deposits. After consulting with radiological neurology, in order to find an iron deposit, specialized sequences must be used, meaning that the head MRI is to be repeated (Inselspital 15 Jun 07). 4. Also, on 15 May 07, excluded a Morbus Wilson using Ceruloplamine and a copper level test. Additionally, performed a differential diagnostic to exclude ferritinopathy. 5. The cause of the hyper chromatic macrocytes is still unclear at this time, as well as the cause of the increased folic acid levels.
We have requested a consult of the medical records by hematology. 6. The patient resides in Zurich and desires his care to continue there as soon as possible. After further consultation with Dr. Minder (Triemli Hospital Zurich) a possibility exists to refer the patient to their ambulatory clinic for bloodletting. 7. The patient’s 34 brothers are to be examined for the mutation. Current complaints: this patient was referred by Prof. Decaro, whom the patient has consulted since 2005 for the existing vestibular vertigo and other significant neurological changes.
Initially the patient noticed an unfocused vestibular vertigo. He describes this vertigo as having a feeling of ‘sitting in a boat’. These complaints are different from day to day, but on good days are still present. Additionally he has noticed, beginning about 2 years ago, multiple black outs lasting seconds, at times accompanied by him dropping the telephone or other items he may be holding in his hands at the time, without a loss of consciousness. He states he has the feeling that he returns to normal fairly fast. A diurnal dependence exists.
These symptoms occur or more often if he consumes alcohol, which he has stopped drinking alcohol 2 months ago. As opposed to this, multiple short duration attacks occur, without him falling to the floor. In the past few months he has been suffering from itchy paraesthesia; a feeling as if ants are running over his proximal extremities. Personal history: palpitations (cardiology clarification, nightly multiple benign extra systoles). Multiple occurrences of injuries while playing rugby, but no prior breaking of any bones or loss of consciousness.
Erectile dysfunction (not able to maintain an erection over extended amount of time). Status after he participates in stress filled work situations has changed in the past 3 to 4 years: no longer able to handle stress well. Family history: grandfather on maternal side suffered from skin cancer. Both parents are healthy, his father abuse alcohol and tobacco. 3 brothers, all healthy. Social history: patient is single, was born in Scotland and grew up in the US. Has been living in Genf for the past 12 years and works as a banker in the stock market. For the past 2 months he has been seeing a lady in London.
About 3 times per week he jogs for about 1 hour and also participates in ice climbing. Systemic history: no fever, yet a feeling of increased body temperature. Often has night sweats but does not end up changing clothes. He feels fatigued in regards to his stress tolerance, in particular when experiencing additional stress (which may well be connected to the alcohol consumption). His appetite and thirst are normal (2 to 3 liters of water daily). He suffers from a hood like headache, chronic vestibular vertigo, no sensitivity abnormality aside from the itchy paraesthesia with intermittent palsy ‘kicking of feet’.
He suffers from an inability to focus in the past few years. His pulmonary function is bland and normal. Cardiac function: palpitations, mostly at night. Since he has been doing yoga, he has been able to process and handle these often recurring symptoms. Once he experienced angina pain of the retrosternal while under stress, without any stress with immediate improvement after he rested. No nausea and no symptoms of vomiting. He has been receiving care from an osteopath for ‘stiff neck’ accompanied by muscle myogelosis.