Contact Information

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Diagnosis

Below are the diagnoses that the site is currently set up to handle. Please choose the most appropriate diagnosis from the menu. If the diagnosis you have in mind is not present, please write it in the box provided. However, it is much preferred that you use the options available. After providing a diagnosis, please provide information about the Disease/Disorder you have selected. This information will be presented to the students when they choose the correct diagnosis. This is a form for extra diagnoses. Please note, this will send a separate file than the main submission form. If you need additional responses, you may submit this additional form as many times as necessary.

--Structural and Other-- Arterial Dissection Arteriovenous Malformation Epidural Hematoma Hydrocephalus, Benign External Hydrocephalus, Communicating Hydrocephalus, Noncommunicating Intraventricular Hemorrhage Periventricular Leukomalacia Porencephaly Subdural Hematoma Vein of Galen Aneurysm --Malformations and neurocutaneous disorders-- Agenesis of the Corpus Callosum Band Heterotopia Chiari I Chiari II (Arnold Chiari) Chiari III Holoprosencephaly Hydranencephaly Linear Sebaceous Nervous Syndrome Lissencephaly Neurofibromatosis I Neurofibromatosis II Periventricular Heterotopia Polymicrogyria Schizencephaly Septo-Optic Dysplasia Sturge-Weber Syndrome Tuberous Sclerosis --Metabolic and degenerative disorders-- Adrenoleukodystophy, X-linked Adrenoleukodystrophy, Neonatal Alpers Alexanders's Disease Alternating hemiplegia of childhood Ataxia Telangiectasia Canavan's Disease Friedreich's Ataxia Galactosemia Glutaric aciduria Hallervorden-Spatz Homocystinuria Hunter Huntington disease Hurler Isovaleric acidemia Krabbe disease Leber's Hereditary Optic Neuropathy Leigh Disease Lesch-Nyhan Maple Syrup Urine Disease Medium chain acyl-CoA dehydrogenase defect MELAS Menke's MERRF Metachromatic Leukodystrophy Methylmalonic acidemia Neimann-Pick Type C Neuronal ceroid lipofuscinosis: early infantile Neuronal ceroid lipofuscinosis: late infantile Neuronal ceroid lipofuscinosis: juvenile Pelizaeus Merzbacher Phenylketonuria Propionic acidemia Reye's syndrome Sanfillipo Tay-Sachs Urea cycle defect Wilson's Zellweger's --Neuromuscular, anterior horn cell-- Becker muscular dystrophy Central core disease Congenital muscular dystrophy Congenital myasthenic syndrome Congenital myotonic dystrophy Dermatomyositis Duchenne muscular dystrophy Hyperkalemic periodic paralysis Hypokalemic periodic paralysis Infantile botulism Myasthenia gravis Myotonic dystrophy Myotubular (centronuclear) myopathy Nemaline rod myopathy Spinal mucular atrophy Spinal muscular atrophy I (Werdnig Hoffman) Spinal muscular atrophy II Transient neonatal myasthenia --Movement disorders-- Acute cerebellar ataxia Chronic motor tics Dopa-responsive dystonia Hyperekplexia Kernicterus Sydenham's chorea Tourette syndrome --Tumors-- Brain Tumor, Unspecified Brainstem glioma Cerebellar astrocytoma Cerebral Glioma, High grade Cerebral Glioma, Low grade Choroid plexus papilloma Craniopharyngioma Ependymoma Medulloblastoma Optic nerve glioma Pinealoma Pituitary ademoma Primitive neuroectodermal tumor, cerebral --Sleep Disorders-- Benign neonatal sleep myoclonus Narcolepsy Night terrors --Cognitive and behavioral disorders-- Attention deficit disorder Attention deficit hyperactivity disorder Autismor pervasive developmental disorder Conversion disorder Dyslexia --Infections, inflammatory, and postinfectious-- Bacterial meningitis Brain Abcess Cryptococcal meningitis Congenital syphilis Herpes simplex encephalitis HIV encephalopathy Lupus cerebritis Lyme disease Multiple sclerosis Optic neuritis PANDAS Subacute sclerosing panencephalitis Transverse myelitis Tuberculous meningitis --Chromosomal disorders and other syndromes-- Angelman syndrome Fragile X Klinefelter syndrome Prader Willi syndrome Rett syndrome Trisomy 13 Trisomy 18 Trisomy 21 Wolf-Hirschhorn syndrome (4p-) --Headaches and migraines-- Basilar migraine Benign paroxysmal vertigo Migraine with visual aura Migraine without aura Pseudotumor cerebri -- Seizures, epilepsies, and other paroxysmal events--" Absence epilepsy Benign familial neonatal seizures Benign Rolandic epilepsy (benign centrotemporal epilepsy of childhood) Complex febrile seizures Cyanotic breath-holding spells Generalized epilepsy with febrile seizures plus Glucose transporter deficiency Infantile spasms Juvenile myoclonic epilepsy Landau-Kleffner syndrome Lennox-Gastaut syndrome Mesial temporal sclerosis Pallid breath-holding spells Partial seizures, Complex Partial seizures, Simple Partial seizures with secondary generalization Rasmussen's encephalitis Simple febrile seizures Status epilepticus

Teaching Points about this diagnosis:
This information will be presented to the student upon selection of the correct diagnosis.
Please fill in any information that is applicable. Remember- this is an education tool for students, so the more the better!

Age of Onset:
Most Common Symptoms:
Rarer Symptoms:
Usual Course of Disorder:
Genetics of the disorder (if applicable):
Groups that may be at a higher risk:
Etiology and Pathogenesis:
Tests used to Diagnose:
Other Diseases Commonly in Differential Diagnoses:
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Additional Information:
Links to Other Sites about this Disorder:

Case Vignettes

Please supply background information about the case.

Chief Complaint:
History of Present Illness:
Past Medical History:
Family History:
Social History:
Review of Systems:
Physical Exam:
Growth Charts:	Would you like the student to have access to a normal growth chart (as a reference tool)? Yes. No. Will you include a growth chart of your own? Yes. No. If so- please email a scanned growth chart, in GIF or JPEG format to: cemikese@umich.edu or mail to: Christine Mikesell 240 Lake Village Dr. #205 Ann Arbor, MI 48103

If there are any particular points you want to stress- or explain- to the students, please comment on them below. These points can be things that are important in this case study, such as a particularly important piece of background information, or something that in this case is not important, such as a family history of cancer.

Information	Why is this important?

 

Responses to Student Misdiagnoses

If there are particular diagnoses that you feel are more likely to be incorrectly chosen in this case, please chose them below. Then, in the space provided, give a reason this could not be the proper diagnosis. For example, brain tumor could not be the correct diagnosis because the results of the MRI rule this diagnosis out. By providing this information, when a student selects an incorrect diagnosis, rather than simply being told their choice is incorrect, they will be told why it is incorrect. This will help the students to think through the vignette, rather than guessing which diagnosis is correct. This is a form for extra responses to student misdiagnoses. Please note, this will send a separate file than the main submission form. If you need additional responses, you may submit this additional form as many times as necessary.

Diagnosis Response 1

--Structural and Other-- Arterial Dissection Arteriovenous Malformation Epidural Hematoma Hydrocephalus, Benign External Hydrocephalus, Communicating Hydrocephalus, Noncommunicating Intraventricular Hemorrhage Periventricular Leukomalacia Porencephaly Subdural Hematoma Vein of Galen Aneurysm --Malformations and neurocutaneous disorders-- Agenesis of the Corpus Callosum Band Heterotopia Chiari I Chiari II (Arnold Chiari) Chiari III Holoprosencephaly Hydranencephaly Linear Sebaceous Nervous Syndrome Lissencephaly Neurofibromatosis I Neurofibromatosis II Periventricular Heterotopia Polymicrogyria Schizencephaly Septo-Optic Dysplasia Sturge-Weber Syndrome Tuberous Sclerosis --Metabolic and degenerative disorders-- Adrenoleukodystophy, X-linked Adrenoleukodystrophy, Neonatal Alpers Alexanders's Disease Alternating hemiplegia of childhood Ataxia Telangiectasia Canavan's Disease Friedreich's Ataxia Galactosemia Glutaric aciduria Hallervorden-Spatz Homocystinuria Hunter Huntington disease Hurler Isovaleric acidemia Krabbe disease Leber's Hereditary Optic Neuropathy Leigh Disease Lesch-Nyhan Maple Syrup Urine Disease Medium chain acyl-CoA dehydrogenase defect MELAS Menke's MERRF Metachromatic Leukodystrophy Methylmalonic acidemia Neimann-Pick Type C Neuronal ceroid lipofuscinosis: early infantile Neuronal ceroid lipofuscinosis: late infantile Neuronal ceroid lipofuscinosis: juvenile Pelizaeus Merzbacher Phenylketonuria Propionic acidemia Reye's syndrome Sanfillipo Tay-Sachs Urea cycle defect Wilson's Zellweger's --Neuromuscular, anterior horn cell-- Becker muscular dystrophy Central core disease Congenital muscular dystrophy Congenital myasthenic syndrome Congenital myotonic dystrophy Dermatomyositis Duchenne muscular dystrophy Hyperkalemic periodic paralysis Hypokalemic periodic paralysis Infantile botulism Myasthenia gravis Myotonic dystrophy Myotubular (centronuclear) myopathy Nemaline rod myopathy Spinal mucular atrophy Spinal muscular atrophy I (Werdnig Hoffman) Spinal muscular atrophy II Transient neonatal myasthenia --Movement disorders-- Acute cerebellar ataxia Chronic motor tics Dopa-responsive dystonia Hyperekplexia Kernicterus Sydenham's chorea Tourette syndrome --Tumors-- Brainstem glioma Cerebellar astrocytoma Cerebral Glioma, High grade Cerebral Glioma, Low grade Choroid plexus papilloma Craniopharyngioma Ependymoma Medulloblastoma Optic nerve glioma Pinealoma Pituitary ademoma Primitive neuroectodermal tumor, cerebral --Sleep Disorders-- Benign neonatal sleep myoclonus Narcolepsy Night terrors --Cognitive and behavioral disorders-- Attention deficit disorder Attention deficit hyperactivity disorder Autismor pervasive developmental disorder Conversion disorder Dyslexia --Infections, inflammatory, and postinfectious-- Bacterial meningitis Cryptococcal meningitis Congenital syphilis Herpes simplex encephalitis HIV encephalopathy Lupus cerebritis Lyme disease Multiple sclerosis Optic neuritis PANDAS Subacute sclerosing panencephalitis Transverse myelitis Tuberculous meningitis --Chromosomal disorders and other syndromes-- Angelman syndrome Fragile X Klinefelter syndrome Prader Willi syndrome Rett syndrome Trisomy 13 Trisomy 18 Trisomy 21 Wolf-Hirschhorn syndrome (4p-) --Headaches and migraines-- Basilar migraine Benign paroxysmal vertigo Migraine with visual aura Migraine without aura Pseudotumor cerebri -- Seizures, epilepsies, and other paroxysmal events--" Absence epilepsy Benign familial neonatal seizures Benign Rolandic epilepsy (benign centrotemporal epilepsy of childhood) Complex febrile seizures Cyanotic breath-holding spells Generalized epilepsy with febrile seizures plus Glucose transporter deficiency Infantile spasms Juvenile myoclonic epilepsy Landau-Kleffner syndrome Lennox-Gastaut syndrome Mesial temporal sclerosis Pallid breath-holding spells Partial seizures, Complex Partial seizures, Simple Partial seizures with secondary generalization Rasmussen's encephalitis Simple febrile seizures Status epilepticus

Diagnosis Response 2

--Structural and Other-- Arterial Dissection Arteriovenous Malformation Epidural Hematoma Hydrocephalus, Benign External Hydrocephalus, Communicating Hydrocephalus, Noncommunicating Intraventricular Hemorrhage Periventricular Leukomalacia Porencephaly Subdural Hematoma Vein of Galen Aneurysm --Malformations and neurocutaneous disorders-- Agenesis of the Corpus Callosum Band Heterotopia Chiari I Chiari II (Arnold Chiari) Chiari III Holoprosencephaly Hydranencephaly Linear Sebaceous Nervous Syndrome Lissencephaly Neurofibromatosis I Neurofibromatosis II Periventricular Heterotopia Polymicrogyria Schizencephaly Septo-Optic Dysplasia Sturge-Weber Syndrome Tuberous Sclerosis --Metabolic and degenerative disorders-- Adrenoleukodystophy, X-linked Adrenoleukodystrophy, Neonatal Alpers Alexanders's Disease Alternating hemiplegia of childhood Ataxia Telangiectasia Canavan's Disease Friedreich's Ataxia Galactosemia Glutaric aciduria Hallervorden-Spatz Homocystinuria Hunter Huntington disease Hurler Isovaleric acidemia Krabbe disease Leber's Hereditary Optic Neuropathy Leigh Disease Lesch-Nyhan Maple Syrup Urine Disease Medium chain acyl-CoA dehydrogenase defect MELAS Menke's MERRF Metachromatic Leukodystrophy Methylmalonic acidemia Neimann-Pick Type C Neuronal ceroid lipofuscinosis: early infantile Neuronal ceroid lipofuscinosis: late infantile Neuronal ceroid lipofuscinosis: juvenile Pelizaeus Merzbacher Phenylketonuria Propionic acidemia Reye's syndrome Sanfillipo Tay-Sachs Urea cycle defect Wilson's Zellweger's --Neuromuscular, anterior horn cell-- Becker muscular dystrophy Central core disease Congenital muscular dystrophy Congenital myasthenic syndrome Congenital myotonic dystrophy Dermatomyositis Duchenne muscular dystrophy Hyperkalemic periodic paralysis Hypokalemic periodic paralysis Infantile botulism Myasthenia gravis Myotonic dystrophy Myotubular (centronuclear) myopathy Nemaline rod myopathy Spinal mucular atrophy Spinal muscular atrophy I (Werdnig Hoffman) Spinal muscular atrophy II Transient neonatal myasthenia --Movement disorders-- Acute cerebellar ataxia Chronic motor tics Dopa-responsive dystonia Hyperekplexia Kernicterus Sydenham's chorea Tourette syndrome --Tumors-- Brainstem glioma Cerebellar astrocytoma Cerebral Glioma, High grade Cerebral Glioma, Low grade Choroid plexus papilloma Craniopharyngioma Ependymoma Medulloblastoma Optic nerve glioma Pinealoma Pituitary ademoma Primitive neuroectodermal tumor, cerebral --Sleep Disorders-- Benign neonatal sleep myoclonus Narcolepsy Night terrors --Cognitive and behavioral disorders-- Attention deficit disorder Attention deficit hyperactivity disorder Autismor pervasive developmental disorder Conversion disorder Dyslexia --Infections, inflammatory, and postinfectious-- Bacterial meningitis Cryptococcal meningitis Congenital syphilis Herpes simplex encephalitis HIV encephalopathy Lupus cerebritis Lyme disease Multiple sclerosis Optic neuritis PANDAS Subacute sclerosing panencephalitis Transverse myelitis Tuberculous meningitis --Chromosomal disorders and other syndromes-- Angelman syndrome Fragile X Klinefelter syndrome Prader Willi syndrome Rett syndrome Trisomy 13 Trisomy 18 Trisomy 21 Wolf-Hirschhorn syndrome (4p-) --Headaches and migraines-- Basilar migraine Benign paroxysmal vertigo Migraine with visual aura Migraine without aura Pseudotumor cerebri -- Seizures, epilepsies, and other paroxysmal events--" Absence epilepsy Benign familial neonatal seizures Benign Rolandic epilepsy (benign centrotemporal epilepsy of childhood) Complex febrile seizures Cyanotic breath-holding spells Generalized epilepsy with febrile seizures plus Glucose transporter deficiency Infantile spasms Juvenile myoclonic epilepsy Landau-Kleffner syndrome Lennox-Gastaut syndrome Mesial temporal sclerosis Pallid breath-holding spells Partial seizures, Complex Partial seizures, Simple Partial seizures with secondary generalization Rasmussen's encephalitis Simple febrile seizures Status epilepticus

 

Blood Work

For all test options, the default answer is "Not Appropriate." If you feel a certain test is indicated, please choose "Appropriate" and then indicate the test results in the space provided. Please note: the tests are not in alphabetical order.. Students selecting the tests deemed "Not Appropriate" will be told the test was not appropriate, and that the test results are normal.

Albumin and Protein	Not Appropriate Appropriate	Normal
Alpha-feto protein	Not Appropriate Appropriate	Normal
Ammonia	Not Appropriate Appropriate	Normal
Anti-acetylcholine receptor antibody titers	Not Appropriate Appropriate	Normal
Antiepileptic drug levels	Not Appropriate Appropriate	Normal
Antinuclear antibodies	Not Appropriate Appropriate	Normal
Antistreptococcal titers	Not Appropriate Appropriate	Normal
Arterial Blood Gas	Not Appropriate Appropriate	Normal
Arterial lactate, pyruvate	Not Appropriate Appropriate	Normal
Biotinidase assay	Not Appropriate Appropriate	Normal
Calcium	Not Appropriate Appropriate	Normal
Carnitine and Acyl-Carnitine	Not Appropriate Appropriate	Normal
Cholesterol	Not Appropriate Appropriate	Normal
Complete Blood Count with Differential	Not Appropriate Appropriate	Normal
Copper	Not Appropriate Appropriate	Normal
CPK	Not Appropriate Appropriate	Normal
Electrolytes	Not Appropriate Appropriate	Normal
Erythrocyte sedimentation rate	Not Appropriate Appropriate	Normal
FISH for Prader Willi, Angelman syndromes	Not Appropriate Appropriate	Normal
FTA	Not Appropriate Appropriate	Normal
Glucose	Not Appropriate Appropriate	Normal
HIV testing (Western Blot)	Not Appropriate Appropriate	Normal
Karyotype	Not Appropriate Appropriate	Normal
Lead	Not Appropriate Appropriate	Normal
Liver Function Tests	Not Appropriate Appropriate	Normal
Lysosomal enzymes	Not Appropriate Appropriate	Normal
Magnesium	Not Appropriate Appropriate	Normal
PCR for dystrophin gene	Not Appropriate Appropriate	Normal
PCR for Fragile X mutation	Not Appropriate Appropriate	Normal
PCRs- Other Specific Tests	Not Appropriate Appropriate	Please specify which
PCR for SMN and NAIP genes	Not Appropriate Appropriate	Normal
Plasma amino acids	Not Appropriate Appropriate	Normal
Thyroid function tests	Not Appropriate Appropriate	Normal
Serum immunoglobulin levels	Not Appropriate Appropriate	Normal
VDRL	Not Appropriate Appropriate	Normal
Very long chain fatty acids	Not Appropriate Appropriate	Normal
Vitamin E level	Not Appropriate Appropriate	Normal

 

Urine Studies

For all test options, the default answer is "Not Appropriate." If you feel a certain test is indicated, please choose "Appropriate" and then indicate the test results in the space provided. Please note: the tests are not in alphabetical order. Students selecting the tests deemed "Not Appropriate" will be told the test was not appropriate, and that the test results are normal.

24 hour urinary copper	Not Appropriate Appropriate	Normal
24 hour urine heavy metals	Not Appropriate Appropriate	Normal
Reducing substances	Not Appropriate Appropriate	Normal
Urinalysis	Not Appropriate Appropriate	Normal
Urine amino acids	Not Appropriate Appropriate	Normal
Urine catecholamines	Not Appropriate Appropriate	Normal
Urine mucopolysaccharides	Not Appropriate Appropriate	Normal
Urine Organic Acids	Not Appropriate Appropriate	Normal
Urine protoporphyrins	Not Appropriate Appropriate	Normal
Urine sulfites	Not Appropriate Appropriate	Normal
Urine toxicology screen	Not Appropriate Appropriate	Normal

 

CSF Studies

For all test options, the default answer is "Not Appropriate." If you feel a certain test is indicated, please choose "Appropriate" and then indicate the test results in the space provided. Please note: the tests are not in alphabetical order. Students selecting the tests deemed "Not Appropriate" will be told the test was not appropriate, and that the test results are normal.

AFB Staining and Culture	Not Appropriate Appropriate	Normal
Amino Acids	Not Appropriate Appropriate	Normal
Bacterial culture	Not Appropriate Appropriate	Normal
Cell Counts	Not Appropriate Appropriate	Normal
Cryptococcal antigen	Not Appropriate Appropriate	Normal
Cytology	Not Appropriate Appropriate	Normal
FTA	Not Appropriate Appropriate	Normal
Glucose and Protein	Not Appropriate Appropriate	Normal
Gram Stain	Not Appropriate Appropriate	Normal
IgG index	Not Appropriate Appropriate	Normal
Lactate, pyruvate	Not Appropriate Appropriate	Normal
Myelin basic protein	Not Appropriate Appropriate	Normal
Oligoclonal bands	Not Appropriate Appropriate	Normal
Opening Pressure	Not Appropriate Appropriate	Normal

 

Tissue Studies

For all test options, the default answer is "Not Appropriate." If you feel a certain test is indicated, please choose "Appropriate" and then indicate the test results in the space provided. Please note: the tests are not in alphabetical order. Students selecting the tests deemed "Not Appropriate" will be told the test was not appropriate, and that the test results are normal.

Bone marrow biopsy	Not Appropriate Appropriate	Normal
Muscle biopsy: dystrophin immunostaining	Not Appropriate Appropriate	Normal
Muscle biopsy: mitochondrial enzymes	Not Appropriate Appropriate	Normal
Muscle biopsy: pathology	Not Appropriate Appropriate	Normal
Skin biopsy for fibroblasts	Not Appropriate Appropriate	Normal
Western blot for dystrophin	Not Appropriate Appropriate	Normal

 

Imaging Studies

For all test options, the default answer is "Not Appropriate." If you feel a certain test is indicated, please choose "Appropriate" and then indicate the test results in the space provided. Please note: the tests are not in alphabetical order. Students selecting the tests deemed "Not Appropriate" will be told the test was not appropriate, and that the test results are normal.

Abdominal CT	Not Appropriate Appropriate	Normal
Brain MR angiogram	Not Appropriate Appropriate	Normal
Brain MR venogram	Not Appropriate Appropriate	Normal
Brain MRI	Not Appropriate Appropriate	Normal
Carotid Doppler	Not Appropriate Appropriate	Normal
Catheter angiogram	Not Appropriate Appropriate	Normal
Chest CT	Not Appropriate Appropriate	Normal
Echocardiogram	Not Appropriate Appropriate	Normal
Head CT without and with contrast	Not Appropriate Appropriate	Normal
Head CT without contrast	Not Appropriate Appropriate	Normal
Head ultrasound	Not Appropriate Appropriate	Normal
Orbital CT	Not Appropriate Appropriate	Normal
Spine MRI	Not Appropriate Appropriate	Normal

 

Electrophysiology Studies

For all test options, the default answer is "Not Appropriate." If you feel a certain test is indicated, please choose "Appropriate" and then indicate the test results in the space provided. Please note: the tests are not in alphabetical order. Students selecting the tests deemed "Not Appropriate" will be told the test was not appropriate, and that the test results are normal.

Brainstem auditory evoked responses	Not Appropriate Appropriate	Normal
EEG	Not Appropriate Appropriate	Normal
EKG	Not Appropriate Appropriate	Normal
EMG, nerve conduction velocities	Not Appropriate Appropriate	Normal
Sleep studies	Not Appropriate Appropriate	Normal
Somatosensory evoked responses	Not Appropriate Appropriate	Normal
Visual evoked responses	Not Appropriate Appropriate	Normal

 

Specialized Studies

Listed below are several specialized studies/referrals to specialists.For all test options, the default answer is "Not Appropriate." If you feel a certain test is indicated, please choose "Appropriate" and then indicate the test results in the space provided. Please note: the tests are not in alphabetical order. Provided at the bottom are empty spaces for tests you may wish to have appear as an option for students. These tests may or may not be appropriate. Please fill in the test/referral you wish, whether it is appropriate, and the results given. Students selecting the tests deemed "Not Appropriate" will be told the test was not appropriate, and that the test results are normal. This is an extra form for specialized studies. Please note, this will send a separate file than the main submission form. If you need additional responses, you may submit this additional form as many times as necessary.

Referral to Ophthalmology	Not Appropriate Appropriate	Normal
Wood's Lamp	Not Appropriate Appropriate	Normal
	Not Appropriate Appropriate	Normal
	Not Appropriate Appropriate	Normal
	Not Appropriate Appropriate	Normal
	Not Appropriate Appropriate	Normal