Rare Diseases Past Board Exam Question: Threaded beneath the skin. A.

Chiary Malformation - Arnold Chiary Malformation - Malformation of contents of the posterior fossa of the skull - Inborn/Congenital in nature Past Board Exam Question: In assessing a child with Chiary Malformation, what would you expect? Answer: 28-40% (Hydrocephalus) Types: Type 1 - Maybe asymptomatic - Downward placement of the Medulla Oblangata thru Foramen Magnum Type 2 - Almost exclusively seen with myelomengiocele - Downward displacement of Brainstem, Cerebellum and the 4th ventricle of the brain. Type 3 - Occlusion/Absence of ventricles S/Sx (Infants): Bulging and tensed fontanelles (Non-pulsatile fontanelles) Dilated scalp vein Separation of suture: creates a crack pot sounds upon palpation (Macewen Sign) (Severe cases) Frontal bossing/Protrusion, Eyes are rolled down (Setting sun sign), Increased ICP; Decreased LOC S/Sx (Children) R/T Increased ICP > 3 y/o, spinal cord dysfunction (Scoliosis) Proximal to the level of Myelomeningocele Types of Shunt: Ventriculo-Peritoneal Shunt, VentriculoAtrial Shunt Complications of Shunt Replacement 1. Malfunction R/T Obstruction (S/Sx: Increased ICP) 2. Infection Worst Complication Nursing Management Post-op Place the patient on the NON-OPERATIVE SITE (To prevent pressure on the shunt) Keep the patient FLAT ON BED (To prevent rapid loss of CSF) Assess the site for leakage, inflammation and neuro S/Sx Assess pupils; Dilation may indicate CN III compression Past Board Exam Question: Assess for abdominal distention (Peritonitis R/O). B. Kluver-Bucy Syndrome - A behavioral disorder that occurs when both Right and Left Medial Temporal Lobes (Amygdala) of the brain malfunctioned. Past Board Exam Question: Primary Etiology Herpes Simplex Encephalitis (Virus). CVA, CO Poisoning. Signs and Symptoms: Docility Decrease Responses Dietary Changes Eating of inappropriate things (Pica) Hyperorality Tendency to examine things by mouth Hypersexuality Sexual Stimulation thru inappropriate things Visual Agnosia Inability to recognize familiar things Treatment: Antipsychotic Agent Improve behavior of the patient Diagnostics: No definite Dx History and P.A MRI may show lesions of Amygdala Nursing Management: Maintain optimum nutrition Promote safety Provide diversionary activities Control undesirable sexual behavior Prevention! Usage of antiviral agents C. Huntingtons Disease - Autosomal dominant (50%) progressive neurologic

Past Board Exam Question: Headache upon awakening with improvement following emesis or upright position. Diagnostic Test: Antenatal diagnosis Fetal UTz (14 wks AOG) Infants Head Circumference measurements + Neuro S/Sx Children Neuro-Imaging technique (CT Scan, MRI) Past Board Exam Question: In Neuro-Imaging Technique specifically MRI, a child maybe sedated. Treatment: Surgery Shunt replacement

disease characterized by emotional disturbances, intellectual decline, CHOREA (St. Vitus Dance) Abnormal uncontrollable jerky dance-like movement. - Etiology: Genetic Abnormality specifically chromosome # 4. S/Sx: Onset: 30/40 years old (Females and Males: Equal Affectation) Death Occurs 15 to 20 years later Suspiciousness, Negative-minded (Psychosis, Depression) Cognitive Decline Inability to provide self-care Chorea Past Board Exam Questions 1. Most common cause of death: Respiratory complications r/t aspiration Aspiration Pneumonia Patient is achoreic while asleep Diagnostic Tests: No definite Dx Test MRI may show atrophy of the Basal Ganglia Family history taking and P.A. Treatment Antipsychotic Agents Haloperidol (Improves behavior) Diazepam Decrease Anxiety Nursing Management Prevent aspiration Upright Position Stress free environment during feeding time Use straw and adaptive eating utensils 5,000 kcal/day Use vitamin supplements Facilitate communication Develop physical signals, Use cards with printed words Chin to chest while swallowing Food choices: Foods that form bolus/paste in the mouth Mashed potato Canned peaches Chopped meat in gravy Past Board Exam Question: Feeding tube maybe needed. D. Amyotrophic Lateral Sclerosis - Lou Gehrigs Disease/Charcots Disease - Rare, age dependent, fatal paralytic disease - Etiology: Degeneration of Motor Neurons in the anterior horn and corticospinal tract of the spinal cord. - Most common motor neuron disease Past Board Exam Questions: It is more common in men Respiratory Compromise Most common cause of death

S/Sx: Tremors and Fasciculation Ascending paralysis Sensation, cognition, bladder and bowel control remain Trunk and lower extremities are not affected until late in the disease. Diagnostic Test: Electromyography (EMG) Treatment: No effective treatment 1996 Riluzole (Prolongs the life of the patient by few months) Nursing Management: Emotional Support Avoid Fatigue Avoid extremes of temperature Use canes, walkers Prevent aspiration Past Board Exam Question: Suction machine available at bed side. E. Creutz Feldt-Jakob - Rare brain disease that produces myoclonus (Muscle jerking), progressive dementia. - Abnormal EEG 2 Mechanisms Genetic Caused by mutated gene Infectious An infectious disease Past Board Exam Questions: Slow Virus, prion, virion 1996 Board Exam CJD was r/t eating infected beef (MAD Cows Disease) Human to human transmission is possible thru tissue transplantation S/Sx: Myoclonus (Muscle Jerking) Abnormal EEG Dementia Dysphagia, dysarthria 90% patients die within one (1) year Diagnostic test: CSF Analysis, EEG Non confirmatory test Post mortem brain biopsy Confirmatory test Treatment: No effective treatment

Management: Maintain optimum nutrition Promote safety Emotional support Use PPE Skin contact with infected materials: Wash with 5% Clorox, or 10% NaOH (Sodium Hydroxide) Surroundings: 10% Chlorox Surgery (Surgical Instruments Steam autoclave for 1 hour at 132 C). Past Board Exam Question: Isolation is not required. [Immunology] Immune Thrombocytopenic Purpura - Idiopathic Thrombocytopenic Purpura - Most common Thrombocytopenic disorder - Autoimmune Hemorrhagic Disease that results in platelet destruction. - Etiology: Self recognizes platelets as foreign bodies. Normal Lifespan of platelets 8 to 10 days ITP 1 to 3 days Normal Platelet Count At least 150,000 mm3 Past Board Exam Question: Women (20-40 years old) S/Sx: Signs and symptoms of bleeding Petechiae Purpura Ecchymosis Epistaxis Gum Bleeding Heavy Menses Diagnostic Test: Platelet count: Below 100,000 cells/mm3 Tourniquet test Past Board Exam Questions: Prolonged Bleeding Time, Normal Coagulation Time Complication Most feared complication is Apoplexy (Stroke), bleeding into the GIT and GUT, bleeding into the diaphragm that can cause respiratory complications, neuralgia (nerve pain) Management: Primary tx Increase dose of steroids Short term therapy Plasmapheresis Surgery Before Sx: IV Gamma globulin (Increase Platelet count) Splenectomy House of Macrophage Nursing Management:

Infection precaution Avoid extreme sports Wear protective clothing (E.g. Elbow pad, helmet)

Organ Donation Laws: Universal Anatomical Gift Act, National Organ Transplant Act Both in USA Human Tissue Act Canada Past Board Exam Question: Any person above 18 years old with sound mind may make a gift of all/part of his body, for the following purposes only: Medical and Dental education Research Advancement in medical/dental sciences Therapy Transplantation How to make a gift? Signing a card like form/make a will. How to revoke? Destroy the card Past Board Exam Question: 1. Oral revocation with 2 witnesses 2. Registered Nurses role is as witness

Complications: Rejection Hyper acute rejection (12-24 hours) Limited treatment option Dialysis/Retrasplantation Acute Rejection (First 3 months) Steroids (Decrease immune system) Side Effect: Immunosuppression Chronic Rejection (After first 3 months) a. Treatment: Same as Acute Rejection but transplantation maybe needed Infection Highest indicator of morbidity and mortality in post transplantation patients Highest indicator of hospital readmission First month; Nosocomial Infection 1 to 6 months Opportunistic infection Most common site: Lungs Oncogenic cells/Ca cells All post transplantation patients must undergo Cancer screening Most common site: Skin Use lotion with SPF 15 or above Malignancy (Cancer)

Management: Surgery Chemotherapy Radiation Regular papsmear (Female) Regular Prostate Specific Antigen (Male) Graft versus Host Disease - Most common and potentially disastrous complication of bone marrow transplant - Happens after 7 to 30 days, p Bone Marrow Transplant Past Board Exam Question: Most important factor in determining GVHD is HLA (Human Leukocyte Antigen) disparity. Types: 1. Acute First 100 days Skin: Erythroderma (Red skin) Liver: Increased Bilirubin GIT: Abdominal Pain and Ileus 2. Chronic After the first 100 days Collagen vascular disease (E.g Systemic Lupus Erythron) Scleroderma like skin fibrosis Sjogrens syndrome Abnormal dry lacrimal gland Past Board Exam Question: Diagnosis to confirm GVHD is Skin Biopsy