THIS IS AN ONLINE E LOG BOOK TO DISCUSS OUR PATIENT'S DE-IDENTIFIED HEALTH DATA SHARED AFTER TAKING HER GUARDIAN'S SIGNED INFORMED CONSENT. HERE WE DISCUSS OUR PATIENT'S PROBLEMS THROUGH SERIES OF INPUTS FROM AVAILABLE GLOBAL ONLINE COMMUNITY EXPERTS WITH AN AIM TO SOLVE THOSE PATIENT'S PROBLEMS WITH COLLECTIVE CURRENT BEST EVIDENCE BASED INPUTS.
[14-06-2025 17.07] PPM 1: Afternoon inpatient:
29F with quadriparesis, inability to walk and bed ridden since 3 months.
Had normal milestones since birth and was fine till 7 years of age when she first demonstrated abnormal behaviour in sudden running amok and often far away from home whenever she got the opportunity along with a decline in her academic prowess.
Gradually she started developing difficulty in speech and since the age of 19 become mute along with gradual paraparesis.
Current motor power is 4/5 in upper limbs and 2/5 in lower limbs along with muscle wasting but hypertonia and exaggerated reflexes. Jaw jerk is absent.
Family tree and certain deidentified phenotypic features are attached.
### Critical Documentation Issues
1. *Invalid Pain Documentation:* "Failure: 1.4", "MAGAZINE", "GRAVY" are nonsensical terms for a pain scale. Legitimate scales use 0-10 (Numeric Rating Scale) or descriptive terms (Wong-Baker FACES®).
2. *Unprofessional Language:* Terms like "GRAVY" undermine clinical credibility.
3. *Missing Mandatory Fields:* No date, time, signature, or designation.
4. *Ambiguous Instructions:* "Put * ______" lacks clarity for documentation compliance.
5. *Inconsistent Format:* Mixes pain scores with unrelated terms ("Motion", "Magazine").
### Clinical Analysis of 29F Patient
*Key Features:*
* *Progressive Neurodegenerative Course:* Normal until age 7 → Behavioral changes (running away) & cognitive decline → Speech difficulties → Mutism by 19 → Paraparesis → *Current: Quadriparesis (UL 4/5, LL 2/5), hypertonia, hyperreflexia, muscle wasting, bedridden x3 months.*
* *Exam:* Absent jaw jerk (crucial finding), spasticity, exaggerated reflexes.
* *Family History:* Mentioned (details awaited).
*Diagnostic Considerations:*
1. *Hereditary Spastic Paraplegia (HSP) / Parapleginopathies:*
* Fits: Progressive spastic paraparesis/quadriparesis, hyperreflexia, family history.
* Challenges: Early behavioral/cognitive onset (age 7), mutism, absent jaw jerk (suggests brainstem involvement beyond corticospinal tracts). Pure HSP typically spares cognition early.
2. *Leukodystrophies:*
* Fits: Progressive motor and cognitive/behavioral decline starting in childhood/adolescence, spasticity. Examples: Metachromatic Leukodystrophy (MLD), Adrenoleukodystrophy (ALD), Krabbe disease. Absent jaw jerk could indicate bulbar involvement.
3. *Juvenile ALS variants (e.g., ALS2, SPG11):* Overlap with HSP, can include cognitive/behavioral features and bulbar signs.
4. *Neurodegeneration with Brain Iron Accumulation (NBIA):* E.g., Pantothenate Kinase-Associated Neurodegeneration (PKAN). Can present with behavioral changes, dystonia, spasticity, cognitive decline. Absent jaw jerk less typical.
5. *Mitochondrial Disorders:* Highly variable, can include spasticity, neuropathy, cognitive decline, bulbar dysfunction.
6. *Complex HSP / "HSP-plus" Syndromes:* (e.g., SPG11, SPG15, SPG7, SPG35). Characterized by HSP plus additional features like cognitive decline, neuropathy, cerebellar signs, thin corpus callosum. *SPG11 is a strong candidate* given juvenile onset, cognitive/behavioral issues preceding motor decline, spastic quadriparesis, and potential for absent deep tendon reflexes in some variants (though hyperreflexia is more common).
*Urgent Next Steps:*
1. *Correct Documentation:* Immediately redo the progress note using standard pain scales (e.g., "Pain: 0/10" or "*" if not assessed), proper terminology, and include date/time/signature/designation.
2. *Comprehensive Investigations:*
* *Brain & Spinal Cord MRI:* Assess white matter, corticospinal tracts, corpus callosum, brainstem, iron accumulation.
* *Electrophysiology:* EMG/NCS (evaluate for motor neuron disease, peripheral neuropathy).
* *Genetic Testing:* Targeted panel for HSP (especially complex/early-onset like SPG11, SPG7, SPG15), leukodystrophies (ARSA for MLD, ABCD1 for ALD), NBIA (PANK2), and juvenile ALS (ALS2, SETX). Whole Exome Sequencing may be needed.
* *Metabolic Screen:* Very Long Chain Fatty Acids (VLCFA - for ALD), Arylsulfatase A (for MLD), Lactate/Pyruvate, Amino Acids, Organic Acids.
* *LP (CSF):* Cell count, protein, glucose, oligoclonal bands, neurotransmitters (if indicated), potentially specific markers (e.g., sulfatides for MLD).
3. *Detailed Family History:* Construct a 3-generation pedigree focusing on neurological/psychiatric symptoms.
4. *Multidisciplinary Care:* Neurology, Rehabilitation, Speech Therapy, Genetics, Palliative Care (for symptom management/advanced care planning).
*Summary:* This is a complex juvenile-onset neurodegenerative disorder. The absent jaw jerk combined with spasticity, cognitive decline, and mutism strongly suggests pathology extending beyond the corticospinal tracts, pointing towards complex HSP (e.g., SPG11) or a leukodystrophy. Genetic testing and advanced imaging are critical. The documentation issues require immediate remediation for patient safety and medico-legal reasons.
[15-06-2025 10:28] PPM 1: Thanks!
I guess it got confused with the family tree being drawn in the pre printed progress note where the handwritten maternal grandfather was interpreted as magazine gravy!
But it's formulation of the possibility of a complex HSP plus syndrome especially SPG 11 is a useful lead where we would need some more general knowledge data about SPG 11 diagnosis and management and natural history from the literature @Meta AI
And off course the main pivot in this patient will be PMR driven by our MBBS graduates as we don't have a separate PMR program here although we have had immense support from top PMR specialists in India such as @PPM4
[15-06-2025 10:28] Meta AI: The misinterpretation of handwritten notes can lead to some wild goose chases, right? 😅 Now, regarding SPG11 - it's a subtype of hereditary spastic paraplegia (HSP) characterized by mutations in the SPG11 gene. Key features often include:
- Early onset, typically in childhood or adolescence
- Progressive spastic paraplegia
- Thinning of the corpus callosum, often visible on MRI
- Cognitive impairment can be present
Diagnosis usually involves genetic testing to identify mutations in the SPG11 gene. Management is largely supportive, focusing on symptom relief and improving quality of life through physical therapy, occupational therapy, and sometimes orthopedic interventions.
Given the complexity of HSP and the specific characteristics of SPG11, a multidisciplinary approach is crucial. Your mention of PMR specialists in India is spot on; their expertise can be invaluable in managing the condition, especially in regions without dedicated PMR programs.
Would you like more details on specific aspects of SPG11 management or recent literature? 📚
[15-06-2025 10:29] PPM 1: @Meta AI thanks.
Would you like to comment separately about the possible differentials given the preliminary patient data below:
Afternoon inpatient:
29F with quadriparesis, inability to walk and bed ridden since 3 months.
Had normal milestones since birth and was fine till 7 years of age when she first demonstrated abnormal behaviour in sudden running amok and often far away from home whenever she got the opportunity along with a decline in her academic prowess.
Gradually she started developing difficulty in speech and since the age of 19 become mute along with gradual paraparesis.
Current motor power is 4/5 in upper limbs and 2/5 in lower limbs along with muscle wasting but hypertonia and exaggerated reflexes. Jaw jerk is absent.
Family tree and certain deidentified phenotypic features are attached
[15-06-2025 10:29] Meta AI: Given the patient's progressive symptoms and specific features, some possible differentials could include:
- Hereditary spastic paraplegias (HSPs) like SPG11, as you've mentioned, given the spastic paraparesis and cognitive decline.
- Leukodystrophies, considering the progressive nature and involvement of both motor and cognitive functions.
- Neurodegenerative disorders such as hereditary spastic paraplegia with dementia or juvenile-onset forms of conditions like amyotrophic lateral sclerosis (ALS), though ALS typically doesn't present with cognitive decline this early or prominently.
- Metabolic disorders that affect the nervous system, such as adrenoleukodystrophy, given the progressive nature and specific symptoms.
The patient's history of abnormal behavior and decline in academic performance followed by gradual motor symptoms like paraparesis and mutism suggests a complex neurodegenerative process. The presence of muscle wasting with hypertonia and exaggerated reflexes points towards upper motor neuron involvement.
The absent jaw jerk is an interesting finding that might help narrow down the differential diagnoses. Family history and genetic factors seem crucial here given the patient's symptoms and progression.
Given the complexity and rarity of these conditions, genetic testing and further neurological evaluation would be key in reaching a definitive diagnosis.
Would you like to explore any of these potential diagnoses further or discuss specific diagnostic tests that might be helpful?
[15-06-2025 10:31] PPM 1: @Meta AI let's explore these potential diagnoses
[15-06-2025 10:31] Meta AI: Let's dive deeper into each of these potential diagnoses:
### Hereditary Spastic Paraplegias (HSPs) like SPG11
- Key Features: Progressive spasticity, thinning of the corpus callosum, cognitive impairment.
- Relevance: The patient's spastic paraparesis, cognitive decline, and progressive nature align with SPG11. Genetic testing for SPG11 mutations would be crucial.
- Next Steps: Confirm genetic diagnosis, assess for corpus callosum thinning via MRI.
### Leukodystrophies
- Key Features: Demyelination, progressive neurological decline, often affecting both motor and cognitive functions.
- Relevance: The patient's gradual decline in motor and cognitive functions could suggest a leukodystrophy. Specific types like metachromatic leukodystrophy or adrenoleukodystrophy might be considered.
- Next Steps: MRI to look for demyelination patterns, enzyme assays or genetic testing for specific leukodystrophies.
### Neurodegenerative Disorders
- Key Features: Progressive neuronal loss, often with specific patterns of cognitive or motor decline.
- Relevance: Conditions like hereditary spastic paraplegia with dementia might fit the patient's profile. Juvenile-onset ALS is less likely given the cognitive decline.
- Next Steps: Detailed neurological evaluation, possibly genetic testing for neurodegenerative disorders.
### Metabolic Disorders (e.g., Adrenoleukodystrophy)
- Key Features: Accumulation of toxic substances, progressive neurological decline, often with specific biochemical markers.
- Relevance: Given the patient's progressive symptoms and cognitive decline, adrenoleukodystrophy or other metabolic disorders might be considered.
- Next Steps: Biochemical tests (e.g., very long-chain fatty acids), genetic testing for metabolic disorders.
Given the patient's complex presentation, a comprehensive diagnostic approach including genetic testing, neuroimaging (MRI), and biochemical tests would be essential.
Which specific aspect would you like to explore further? Genetic testing strategies, neuroimaging findings, or potential therapeutic approaches?
[15-06-2025 10:33] PPM 1: @Meta AI MRI is all we can afford
[15-06-2025 10:33] Meta AI: Given the financial constraints, let's focus on how MRI findings can help narrow down the differential diagnoses:
### MRI Findings for Potential Diagnoses
- Hereditary Spastic Paraplegias (HSPs) like SPG11: Look for thinning of the corpus callosum, which is a hallmark feature. Other findings might include spinal cord atrophy.
- Leukodystrophies: MRI typically shows demyelination patterns, which can vary depending on the specific type (e.g., metachromatic leukodystrophy, adrenoleukodystrophy). Look for symmetrical white matter changes.
- Neurodegenerative Disorders: MRI might show non-specific findings like cerebral or spinal cord atrophy. Specific patterns might be seen in certain conditions, but these can be subtle.
- Metabolic Disorders (e.g., Adrenoleukodystrophy): MRI often shows characteristic demyelination patterns, particularly in the parieto-occipital regions for adrenoleukodystrophy.
Given the patient's symptoms, an MRI of the brain and spinal cord would be crucial. Key aspects to look for include:
- Corpus callosum thinning (for SPG11)
- Demyelination patterns (for leukodystrophies and metabolic disorders)
- Spinal cord atrophy (for HSPs or other neurodegenerative disorders)
The MRI findings can guide further diagnostic testing and help prioritize potential diagnoses.
Would you like to discuss how to interpret specific MRI findings in the context of this patient's symptoms?
[17-06-2025 15:23] PPM 1: What's the update on this patient @PPM5 @PPM6 @PPM7 PPM8@PPM9
[18-06-2025 13:36] PPM 1: @CR EMR summary for the case report 👇
Other than the intern's written text, I have added to it, the insights from your previously done case report (although unfortunately no one in the current treating team read it earlier as it was TLDR)
Age/Gender: 29 Years/Female
Address:
Discharge Type: Relieved
Admission Date: 14/06/2025 12:22 PM
Name of Treating Faculty
PPM 10
Diagnosis
SEIZURES UNDER EVALUATION??CAUSE??
Our added PaJR inputs now:
Progressive Neurodegenerative Course:* Normal until age 7 → Behavioral changes (running away) & cognitive decline → Speech difficulties → Mutism by 19 → Paraparesis → Current: Quadriparesis (UL 4/5, LL 2/5), hypertonia, hyperreflexia, muscle wasting, bedridden x3 months.
Complex HSP / "HSP-plus" Syndromes:* (e.g., SPG11, SPG15, SPG7, SPG35). Characterized by HSP plus additional features like cognitive decline, neuropathy, cerebellar signs, thin corpus callosum. SPG11 is a strong candidate given juvenile onset, cognitive/behavioral issues preceding motor decline, spastic quadriparesis, and potential for absent deep tendon reflexes in some variants (though hyperreflexia is more common).
Case History and Clinical Findings
C/O DIFFICULTY IN WALKING SINCE 3 MONTHS
THIS IS A 29YR OLD FEMALE WITH DEVELOPMENTAL DELAY SINCE SHE IS 7YR OF AGE AND BEHAVIOUR ABNORMALITY SINCE THEN CAME WITH COMPLAINTS OF DIFFICULTY IN WALKING SINCE 3 MONTHS WHICH IS INSIDIOUS IN ONSET GRADUALLY PROGRESSIVE
(INITIALLY PATIENT WAS WALKING WITH SUPPORT THEN SHE COULD NOT WALK EVEN
WITH support.
C/O PEDAL EDEMA PITTING TYPE INITIALLY AROUND
ANKLES AND LATER PROGRESSED TO BELOW KNEE INTERMITTENT IN NATURE.
H/O SEIZURES(GTCS) 7YR AGO AND on REGULAR MEDICATION LAST EPISODE OF SEIZURE
3YR AGO.H/O CONSANGUINOUS MARRIAGE
PERSONAL HISTORY
NORMAL APPETITE,REGULAR BOWEL AND BLADDER,NO ALLERGIES,NO ADDICTIONS
NO SIGNIFICANT FAMILY HISTORY
GENERAL EXAMINATION
NO PALLOR,ICTERUS,CYANOSIS,CLUBBING,LYMPHADENOPATHY,PEDAL EDEMA.
TEMP 99.6
PR 102BPM
RR 22CPM
BP 100/70
Page-2
KIMS HOSPITALS
SPO2 96
GRBS 101MG/DL
CVS, RS, PA NORMAL
CNS
CONSCIOUS, APHASIC, MOTOR, SENSORY SYSTEM CANNOT BE ELICITED
GLASGOW SCALE E4V5M6
REFLEXES
BICEPS TRICEPS SUPINATOR KNEE ANKLE
RIGHT +3 +2 - +3 +2
LEFT +3 +2 _ +3 +2
RIGHT-EXTENSOR
LEFT-FLEXOR
FINGER NOSE NOT IN COORDINATION
KNEE HEEL NOT IN COORDINATION
GAIT-CANNOT BE ELICITED
CNS
PUPILS B/L PUPIL REACTIVE TO LIGHT(MILD DILATED)
TONE R L
UL N N
LL N N
POWER UL RIGHT-4/5 LEFT-3/5
LL RIGHT 4/5 LEFT 3/5
B T S K A P
RIGHT +3 +2 - +3 +2 E
LEFT +3 +2 - +3 +2 F
Investigation
ECG WAS DONE ON 14-6-25
Advice at Discharge
PATIENT AND PATIENT'S ATTENDERS HAVE BEEN COMPLAINED ABOUT THE PATIENT
CONDITION K/C/O GTCS WEAKNESS OF BOTH UL AND LL(LL>UL) CAME FOR MRI SCAN BUT MRI SCAN COULD NOT BE DONE.PATIENT WANTS TO GET DISCHARGED.
Discharge Date
Date:14-6-25
Ward:
Unit:6
[18-06-2025 13:36] PPM 1: @PPM10
TLDR:
Progressive Neurodegenerative Course:* Normal until age 7 → Behavioral changes (running away) & cognitive decline → Speech difficulties → Mutism by 19 → Paraparesis → Current: Quadriparesis (UL 4/5, LL 2/5), hypertonia, hyperreflexia, muscle wasting, bedridden x3 months.
Complex HSP / "HSP-plus" Syndromes:* (e.g., SPG11, SPG15, SPG7, SPG35). Characterized by HSP plus additional features like cognitive decline, neuropathy, cerebellar signs, thin corpus callosum. SPG11 is a strong candidate given juvenile onset, cognitive/behavioral issues preceding motor decline, spastic quadriparesis, and potential for absent deep tendon reflexes in some variants (though hyperreflexia is more common).
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