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(St Mary's Hospital - October 7, 1997)

Dismissing Consultant: D W Dodick, MD
Dismissing Resident: E R Rogers, MD
Service: Neurology
Admission Date: 10/7/97    Dismissal Date: 10/24/97
Code Status: Resuscitate
Advance Directives: None

Dismissal Diagnoses:
     1.  Probable Niemann-Pick disease

Reason for Admission:  Mrs. Burns was transferred from a Jackson, MS, hospital for further evaluation of dysarthria, aphasia, increasing gait disorder for at least 8 months with a significant decline in mental status and alertness as well as right-sided weakness which began acutely in early 8/97.  She was thought to have CNS Whipple's and was placed on high-dose penicillin but deteriorated.  A second duodenal biopsy was negative for Whipple's.  Brain biopsy was obtained and showed only mild gliosis.  Both duodenal and brain biopsies were reviewed by our neuro-pathologist, Dr B W Scheithauer.  Cerebral angiogram performed on 8/14/97 revealed a normal study with no aneurysm or vascular malformations; the intracranial circulation is entirely normal with no evidence for vasculitis; the venous phase is normal in all three circulations.  Her communication dwindled as well as her swallowing, and a percutaneous endoscopic gastronomy (PEG) was placed.  She no longer walks and is only minimally able to follow commands or make needs known.  She requires 24-hour, 1:1 observation.  Etiology is thus far undiscovered.

Past Medical and Surgical History:  Episode of psychosis 1992, hospitalized on high-dose Haldol with significant side effects.  This psychosis recurred almost annually.

Allergies:  Bactrim (rash).

Immunizations: Pneumovax: Unknown.  Tetanus: Unknown.  Influenza: Unknown.

Physical Exam:  General: Age 32. Ht. 170cm. Wt. 69kg.  Vitals: BP 154/76. T 37.3C.  P 80.  R 24.
HEENT:  Pupils equal, round, and reactive to light and accommodation.  Healing scar left frontoparietal region.  Patient refuses to allow her mouth to be opened thus unable to assess oropharynx.  Neck: Supple.  Lungs: Bronchial breath sounds.  No wheezes or rales.  Cardiac: Regular rate and rhythm.  No murmurs.  Abdomen: PEG in place.  Site clean and dry.  Normoactive bowel sounds.  Nontender and nondistended.  Extremities: Bilateral high arch -- pes cavus.  No clubbing, cyanosis, or edema.  Neurologic: Mental status -- unable to assess secondary to language and speech exam.  Awake and alert.  Partially responsive.  Language quite dysarthric with only groans, grunts, and an occasional mushy "yes."  Sometimes follows simple, one-step commands.  Cranial nerves -- no eye blink to threat.  Fundi within normal limits.  No ptosis.  No voluntary upward or downward gaze but with movement of her head, extraocular muscles intact.  Pupils 4mm, round and reactive to light.  Hearing intact.  Left facial droop.  Diffusely hyperreflexic, right greater than left, in the upper extremities and symmetrically in the lower extremities with several beats of clonus at the ankle.  Extensor plantar response on the right with flexor response on the left.  Motor strength -- moves all 4 extremities but seems to move the right extremities relatively less.  Muscle tone -- both rigid and spastic bilaterally, right greater than left.  Sensory, gait, station, coordination, and alternating motor rates not tested secondary to altered mental staus.

Admit Lab Results and Procedures: Blood tests (10/7/97): Hbg 11.1.  WBC 7,500.  Plt 272,000.  Sed rate 31.  B12 698.  Folate 11.1.  INR 3.7.  Na 140.  K 3.6.  Gluc 92.  Glycos Hbg 4.7.  Alk phos 306.  Cr 0.6.  Urea 9.  Ammonia 24.  Amylase 59.  CK 17.  ALT 183.  A.C.E. 7.4.  sTSH 3.0.  Rheumatoid factor <20.  Anti-DS DNA 1.  ANA negative.  ENA 1.3.  Mg 1.7.  Urinalysis (10/8/97): Positive for gram-negative bacilli with 1-3 RBCs and 1-3 WBCs.  Chest x-ray (10/7/97): Right PICC line tip junction of the right atrium and superior vena cava.  Slight elevation right hemidiaphragm.  Chest otherwise negative.

Consultations:  Dermatology, Dr. A. L. Schroeter (10/8/97):  Consulted to perform a skin biopsy in order to rule out Niemann-Pick.  Punch biopsy 5mm was taken from the left thigh without complications.  Ophthalmology, Dr. B. R. Younge (10/9/97): Impression:  She has the classic findings of what we formerly called sea-blue histiocytosis: slowed secedes horizontally, but good pursuit, very weak vertical gaze.  She can make slow pursuit movements.  Dolls eye movements only slightly in vertical direction.  No optic atrophy and maculae are normal.  Vessels are okay.  Therefore this is a symmetric gaze palsy of vertical gaze, affecting voluntary movements more that pursuits.  Nutrition Services (10/9/97):  Recommendation: Tube feedings, change formula to Jevity.  Can meet her needs with 6.5 cans per day, to give 1650 kilocalories plus 68 grams of protein.  Would try giving 1 - cans per feeding 4 times a day, beginning 10/10/97, giving over 60-90 minutes.  If tolerates, can advance on 10/11/97 to 2 cans 3 times a day and can at bedtime.  65cc of water flush before and after each feeding to meet fluid needs without IV.  Cannot give tube feedings for 2 hours before after Dilantin administration, to avoid drug nutrient interaction; therefore, please schedule accordingly.  Gastric residuals should be checked prior to each food feed and held if greater than 100cc.  Social Services (10/14/97):  To help with dismissal planning.  Speech therapy, Dr. J. R. Duffy (10/15/97):  Impression: Mixed dysarthria, moderately severe.  The mix is difficult to sort out, but probably includes hypokinetic, hyperkinetic (dystonic and/or spastic, and maybe ataxic) slow tremor components.  No clear evidence of aphasia, but testing is limited.  Suspect she has some cognitive deficits, however, that may include language functions.  Recommendations:  Primarily to develop strategies for maximizing intelligibility.  Neurology, Dr. J. H. Noseworthy (10/15/97):  Impression: Doubt that she has MS, although the stepwise worsening recently and the apparent steroid responsiveness of the right hemiplegia together with the MRI appearance (corpus callosum involvement, white matter "black holes") is suggestive of this diagnosis.  The supranuclear gaze palsy raises the suspicion of cerebral tenderness, xanthomatisis, Niemann-Pick IIC, or Gaucher's type I.  The myoclonus raises the possibility of Lafora's, Kuf's, and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL).  She needs these diagnoses excluded with appropriate enzyme and biopsy studies including beta-glucocerebrosidase, sphingomyelinase, cholestanol, ceruloplasmin, copper, x-rays of the hand (PLO-SL), ultrasound of the abdomen (organomegaly).  Note: No cataracts were identified by Dr. Younge.  Neurology, Dr. M. C. Patterson (10/16/97):  Impression: The history examination and investigations are consistent with Niemann-Picks disease, type C.  Differential diagnosis as noted by Dr. Noseworthy (but Gaucher's disease type III has horizontal supranuclear gaze palsy rather than vertical).  Recommendations:  Await results of cholesterol esterification studies and filipin staining of cultured fibroblasts to be performed in Dr. O'Brien's lab.  Obtain brain biopsy slides and blocks, and have them read here by Dr. J. E. Parisi.  Would be very happy to review results with family when available and to provide further information on support groups, research, etc.

Diagnostic Procedures:  Blood tests (10/7/97):  SPEP: TP 6.26.  Alb 3.12.  Alpha-1 globulin 0.52.  (10/9/97):  Serum immunoelctrophoresis: No monoclonal protein.  Iron studies: Iron 48.  TIBC 250.  % saturation 19.  Ferritin 448.  (10/10/97):  Urine immunoelectrophoresis: No monoclonal protein.  WBC enzymes: Alpha galactosidease 0.68.  Arylsulfatase 3.56.  Beta-galactosidase 1.32.  Beta-glucosidase in cells 0.13.  Cerebroside beta-galactosidase 47.4.  Alfa-fucosidase 1.14.  Alfa-galactosidase 0.16.  Alpha-N-acetoglucosamine 0.23.  A.C.E. 7.4.  Beta-hexosaminidase 29.2.  Anti-mitochondrial antibody negative.  ANNA-1 negative.  ANNA-2 negative.  PCA-1 negative.  N-type antibody (calcium channel binding antibody) 00.  P/Q type antibody 00.  IgG and IgM phosphalipid antibodies both negative.  (10/12/97): Dilantin level 10.9.  Cerebrospinal fluid (CSF) (10/8/97):  Gluc 73.  TP 61.  D-dimer <250.  Xanthochromia negative.  Cryptococcal antigen negative.  4 total nucleated cells.  1 erythrocyte.  2% neutrophils.  80% lymphocytes.  17% monocytes.  Lactate 2.2.  Pyruvate 0.13.  Urine culture (10/8/97):  Grew mixed flora, including gram-negative rods >100,000, and gram-positive cocci resembling Staphylococcus >100,000.  CSF culture (10/8/97):  IgG index 0.54, unique CSF bands 0, ANNA-1 negative.  ANNA-2 negative.  PCA-1 negative.  FTA-ABS nonreactive.  VDRL nonreactive.  No abnormal cells seen on cytology.  Bacterial culture:  No growth after 5 days.  Viral culture:  No growth after 5 days.  PCR for Lyme disease:  CMV, HSV, JC virus, and Whipple's disease all negative.  Bone marrow biopsy (10/8/97):  Hypercellular bone marrow.  Erythroid hyperplasia.  Few sea-blue histiocytes.  Insufficient to diagnose lipid storage disease.  EEG (10/9/97):  Delta grade 1 generalized; dysrhythmia grade 3 generalized nonspecific.  No significant focal or epileptiform pattern seen.  MRI of the head with and without contrast including a flare sequence (10/10/97):  Moderate generalized cerebellar atrophy with patchy areas of increased T2 signal within the periventricular white matter of the cerebral hemispheres.  Many of these lesions are focal in appearance and some involve the midbody of the corpus callosum.  Additional tiny areas of increased T2 signal are seen in the middle cerebellar peduncles.  No abnormal enhancement with contrast seen.  There is increased iron or other heavy metal deposition within the thalami bilaterally.  This is a nonspecific finding and can be seen in a variety of neurodegenerative disorders.  Postoperative changes left frontal but hole and surgical tract coursing through the right frontal lobe.  Small amount of hemosiderin deposition within the periventricular white matter of the left frontal lobe along the course of the biopsy tract.  When compared to the prior outside MPI of 8/21/97, the cerebellar atrophy has progressed.  The T2 signal changes are similar in degree.  Abnormal leptomeningeal enhancement present on 8/21/97 which extended into the folia of the cerebellum into the sulci of the cerebral hemispheres bilaterally and throughout the perivascular spaces.  This has resolved.  This consolation of MR findings would fit best with a meningoencephalitis that is no longer active today.  Vasculitis or primary cerebral angiitis of the CNS would be another consideration.  Without regard to the abnormal enhancement seen on the outside MRI study.  The white matter lesions  raise the question of a demyelinating process such as MS.  Other demyelinating or inflammatory conditions can also have this appearance.  Mammogram (10/13/97):  Mild breast parenchymal density with benign calcifications on the left.  Bilateral postoperative changes likely due to previous reduction mammoplasties, nothing for malignancy.  Brainstem auditory evoked potentials (10/15/97):  Normal.  This study provides no evidence of a disorder or peripheral or central auditory pathways.  Visual evoked potentials (10/15/97):  There is no evidence of bilaterally symmetric, reduced, central conduction in the visual pathways.  This extent of slowing is most commonly seen with demyelinating or dysmyelinating disorders.  Bilateral hand x-rays (10/15/97):  Both hands negative.

Therapeutic Interventions:  Medical therapy: Mrs. Burns' medication regimen was consolidated initially with the discontinuation of Artane, Sinemet, baclofen, Fergon, and potassium.  The Artane was restarted on 10/18/97 secondary to extraparamental movements becoming more noticeable in the hands.  The K-Lor was restarted due to a drop in potassium without it.  She was also on ciprofloxacin and fluconazole on admission.  The flucanazole was discontinued and the ciprofloxacin was continued until 10/13/97.  The Dilantin was tapered from 400mg q.d. to 200mg with goal of discontinuation.  Coumadin was continued, then held due to an increase in the INR.  The Coumadin was then restarted with a goal INR of 2-3 for her prior right-sided deep venous thrombosis and bilateral pulmonary embolisms.  Insulin coverage was available for glucose above 200, however, this was never required.  Ativan was available on a as needed basis, but was not required after Trazadone 50mg at bedtime was started on 10/18/97.  Her tube feedings were changed to Jevity initially at 1 - cans 4 times a day over 60-90 minutes with 65cc water flushes before and after each feeding.  Feedings were to be held of greater than 100cc gastric residuals were obtained.  Due to nutrient medication interaction, Dilantin was never given within 2 hours before or after the tube feeds.  The tube feeding schedule was then changed to 2 cans 3 times a day with a  can at bedtime.  Prednisone 20mg q.d. and Pepcid 40MG b.i.d. per PEG were continued throughout hospitalization.  Physical, occupational, and speech therapy.

Surgical Procedures:  None.

Dismissal Lab Results:  Blood tests:  INR 1.2.  Na 138.  K 3.6.

PPD:  No record.

Pending Lab Results:  Fibroblast cultures for Niemann-Pick type C.

Condition at Discharge:  Greatly improved with greater alertness and less impaired mental status.  Improved dysarthria.  Stronger with ambulation with assist of 2.

    Functional Status:  Totally dependant.

    Partial/Total Disability Until:  Total indefinitely.

    Return To Work:  Not applicable.

Updated Physical Exam:  Vitals: T 37.0C.  BP 128/84.  P 92.  R 20.  HEENT: Scar left frontoparietal cranium healing well.  Neck: Supple.  Lungs: Bronchial breath sounds.  No wheezes or rales.  Cardiac: Regular rate and rhthym.  No murmurs.  Abdomen: PEG in place.  Site clean and dry.  Normoactive bowel sounds.  Nontender, nondistended.  Extremities: Bilateral pes cavus.  No edema.  Neurologic: Awake and alert.  Fully responsive with good mental status.  Language -- still dysarthric, but for the most part comprehensible.  Cranial nerves intact, except for supranuclear vertical gaze palsy.  Some mild oral buccal dystonia, left greater than right.  Diffusely hyperreflexive, right greater than left.  Mild right hemiparesis much improved.

Dismissal Medications:
1.  Patassium chloride 20mEq per PEG 2 times a day.
2.  Dilantin 200mg per PEG at bedtime.
3.  Predisone 20mg per PEG every day.
4.  Pepcid 40mg per PEG 2 times a day.
5.  Coumadine 5mg per PEG every day.  Goal INR 2.0-2.5.
6.  Artane 2mg per PEG 3 times a day.
7.  Trazadone 50mg per PEG at bedtime.
8.  Dulcolax 10mg suppository as needed.
9.  Laxative of choice as needed.
10. Extra Strength Tylenol 500-1000mg per PEG every 4-6 hours.
11. Maalox as needed.

Level of Care Required: Skilled

Rehabilitation Potential: 
    At present she is improving, however, if Niemann-Pick disease is indeed the diagnosis, her physical and mental status may fluctuate and/or deteriorate.

Clinical Monitoring:  (frequency) Blood pressure: Per routine.  Heart rate: Per routine.  Weight: Per routine.  Diabetes monitoringOther Please check finger-stick blood glucoses 2 times a day.

Diet/Nutrition:  Tube feedings, Jevity 2 cans 3 times a day plus can at bedtime with 65cc water flushes before and after each feeding.  Check gastric residuals prior to each feed and hold feed is residual is greater than 100cc.  No tube feedings 2 hours before or after Dilantin administration.

Community Internal Medicine Standing Orders:  Not applicable.

Ongoing Therapy Indicated:  PT  OT  ST

Physical Activities/Ambulation:  Ambulatory only with assist of 2.

Restraints:  No  Type/Indication:

Continuing Treatments:  Mrs. Burns will be dismissed to a rehabilitation unit in MS.

Follow-Up Arrangements:  With the Neurology Department at Mayo Medical Center as needed.  Dr. Patterson & Dr. Rogers will phone pt & family with results.

Postoperative surgical care to be provided by:  Not a surgical dismissal.

Form completed by:  E. R. Rogers, M.D.
10/09/97 6:23 PM
10/19/97 12:15 PM
10/20/97 2:20 PM
Typed: 10/14/97 11:17 AM/sal03/P
10/20/97 3:50 PM/smb07/CP
10/20/97 4:14 PM/smb07/F