Critical Medical Review of a Clinical Report

This is an official patient report. Unauthorized use or distribution is strictly prohibited without prior consent.

 15. May. 2020

From the Clinic:

Dear Colleague,
Thank you very much for referring the above-mentioned patient to our consultation.

History:
The patient presented today for the first time in our consultation due to recurrent swellings in the back area. These are always associated with a painful event in the head, accompanied by fluid discharge from the nose and ears. She had an MRI of the back a few years ago, after which her pain symptoms worsened. Over the years, she has been diagnosed with spondylitis and stenosis in the thoracic area. She was decompressed due to a Chiari malformation II. Additionally, she underwent back surgery at the L4-5 level, during which there was a cerebrospinal fluid leak. However, no surgery has been performed on the thoracic spine. A secondary diagnosis of psoriasis was noted, which is currently not being treated with medication. She also has persistently low cortisol levels and requests regular monitoring of this value. The pain is described as burning and stabbing, affecting the thigh muscles as well.

Diagnosis:

• Q07.8 Other specified congenital malformations of the nervous system
• Chiari Malformation Type II
• Psoriasis with psoriatic arthritis

Findings:
The patient is alert, oriented, and cooperative. Standing and walking are altered due to pain. No tenderness in the sacroiliac joint. Tiptoe and heel stands are possible bilaterally. Single-leg stand is possible but with weakness in the iliopsoas on both sides, more pronounced on the left than the right. Reflexes are bilaterally symmetrical and normally elicitable in the upper and lower extremities. Babinski and Trömner reflexes are negative on both sides. No manifest paresis or sensory disturbances are present. When the arms are everted, a round, hard, subcutaneously located structure about 7 x 7 cm in size protrudes below the scapula bilaterally. This structure is firm, immobile, and cannot be pushed downward. Skin changes due to psoriasis are present over the entire body. The MRI scan of the head from 10.03.2020 shows Chiari Malformation Type II.

Plan:
In summary, there is no current acute need for neurosurgical intervention. We recommend performing an MRI of the thorax to evaluate the described subcutaneous swelling. Additionally, we suggest an ENT consultation to clarify the reported otorrhea and rhinorrhea. A neurological evaluation is also recommended to conduct somatosensory evoked potentials (SEP). Should a neurosurgical issue arise from these diagnostics, a follow-up is always possible.

With kind regards,

Prof. Dr. XXXX
Senior Physician

XXXX
Assistant Physician

The original text is available in German upon request.

Here is a critical review of the report:

Critical Review of the Medical Report:

The medical report provides a summary of the patient’s complex medical history, current examination findings, diagnoses, and recommended procedures. However, it fails to address several critical aspects of the patient’s condition and does not fully account for all relevant symptoms, which may lead to significant gaps in clinical evaluation and management. The patient presented with a detailed history and prior diagnoses from a U.S. clinic, including MRI and CT scans from 2008 and DNA results from 2010. Unfortunately, these records were not considered in this evaluation, despite their potential to guide further necessary examinations to alleviate her chronic pain. The detailed review below outlines the strengths, areas for improvement, and specific omissions within the report.

1. Clarity and Organization of Information:

Strengths:
The report is structured into distinct sections—history, diagnosis, physical examination findings, and procedural recommendations. This systematic organization supports a clear understanding of the patient’s clinical presentation and the rationale behind the clinician’s decisions.

Areas for Improvement:
While comprehensive, the history section is somewhat disorganized. Separating it into subcategories such as surgical history, neurological symptoms, and pain characteristics would enhance readability and highlight critical information. A timeline of symptom progression and a clear distinction between past and current conditions would also improve the clarity of the patient’s clinical trajectory.

2. History and Diagnostic Workup:

Strengths:
The report provides a detailed account of the patient’s medical history, including significant past diagnoses such as Chiari malformation, spondylitis, and complications from previous surgeries like cerebrospinal fluid (CSF) leaks. This context is essential for understanding the patient’s current symptoms.

Areas for Improvement:

The report fails to include critical conditions reported by the patient, such as Spinal Muscular Atrophy (SMA) (including DNA findings for SMN1, SMN2, and SMN3) and Tarlov cysts (as indicated by MRI findings). SMA, a progressive neuromuscular disorder, could account for symptoms such as muscle weakness, atrophy, and the presence of hard subcutaneous masses below the scapulae, which may represent muscular atrophy or compensatory skeletal changes. Additional investigation—such as further genetic testing, an evaluation for Dysferlinopathies (caused by mutations in the DYSF gene), or a referral to a neuromuscular specialist—should have been considered.

Similarly, Tarlov cysts—perineural cysts often found in the sacral region—were mentioned but not further evaluated. These cysts can cause significant pain, radiculopathy, and difficulty sitting, all of which the patient reported. The lack of linkage between these symptoms and Tarlov cysts represents a missed opportunity for targeted imaging, such as spinal MRI, to assess the impact of these cysts, including at T11 and T12.

Additionally, the report inadequately addresses the patient’s recurrent headaches and concerns about potential meningitis. Given her surgical history and potential CSF leaks, meningitis should have been evaluated as a serious possibility, warranting further diagnostic workup, such as CSF analysis or referral to infectious disease specialists.

The brief mention of psoriasis fails to consider the extent of skin involvement or assess for severe complications like Stevens-Johnson syndrome (SJS). This serious skin condition could present with extensive rash, blistering, and mucosal involvement, particularly in the context of psoriasis or medication exposure. A thorough dermatological assessment should have been included.

3. Physical Examination Findings:

Strengths:
The report includes a detailed physical examination, documenting neurological findings, gait abnormalities, and the presence of subcutaneous masses, which provide valuable insights into the patient’s functional status.

Areas for Improvement:
The patient’s complaint of leg weakness was not thoroughly explored in terms of differential diagnoses. While SMA may be a contributing factor, other potential causes, such as Deep Vein Thrombosis (DVT), were not considered. Given the patient’s limited mobility, DVT should have been evaluated through examination techniques like calf tenderness, swelling measurements, or Doppler ultrasound imaging. A missed DVT diagnosis could lead to serious complications, such as pulmonary embolism.

The evaluation of subcutaneous masses below the scapulae lacked exploration of their etiology, which could be linked to SMA-related muscular atrophy. Further imaging or biopsy may be necessary to determine their nature and how they contribute to the patient’s pain and functional limitations.

The report’s assessment of skin lesions related to psoriasis was inadequate, with no consideration of severe skin reactions like SJS. A comprehensive dermatological consultation would have been appropriate given the patient’s symptoms.

4. Diagnosis:

Strengths:
The diagnoses of Chiari Malformation Type II and psoriatic arthritis align with the patient’s history and examination findings, reflecting an understanding of her neurological and rheumatological conditions.

Areas for Improvement:
The diagnosis section neglects key conditions mentioned by the patient, such as SMA and Tarlov cysts, leading to an incomplete assessment that overlooks significant contributors to her symptoms. Including these conditions in the differential diagnosis would provide a more comprehensive view and guide further evaluations.

The report also fails to address the potential risk of Stevens-Johnson syndrome, which could have serious implications for the patient’s management, particularly given her history of psoriasis.

5. Procedural Recommendations:

Strengths:
The recommendations for MRI of the thorax, ENT consultation, and neurological evaluation indicate a multidisciplinary approach, essential for managing a patient with complex symptoms and multiple comorbidities.

Areas for Improvement:
The report does not prioritize urgent evaluations for potentially life-threatening conditions, such as CSF leaks, suspected meningitis, or leg weakness suggestive of DVT. Immediate referrals for further testing, such as lumbar puncture, CSF analysis, or Doppler ultrasound of the lower extremities, should have been included.

Additionally, the lack of follow-up imaging or referrals related to SMA and Tarlov cysts is a significant oversight. A targeted spinal MRI, especially focusing on the sacral area, and a genetic consultation for SMA could have provided critical insights for management.

6. Overall Clinical Insight and Coordination of Care:

Strengths:
The report demonstrates an awareness of the complexity of the patient’s presentation and incorporates multiple specialties into the management plan.

Areas for Improvement:
There is a need for more comprehensive coordination in addressing all reported symptoms. A more integrated approach involving neurology, neurosurgery, dermatology, vascular medicine, and infectious disease specialists would ensure a thorough evaluation of the patient’s condition, particularly for issues like SMA, Tarlov cysts, DVT, and severe skin reactions.

Prioritizing urgent evaluations for conditions such as meningitis, CSF leaks, and DVT, while integrating the assessment of SMA and Tarlov cysts, would enhance the quality of care and improve patient outcomes.

Conclusion:

While the report provides a structured assessment, it does not adequately address all relevant symptoms and conditions. Critical issues, such as the potential for DVT, possible meningitis, the connection between subcutaneous masses and SMA, symptoms such as muscle weakness, atrophy, and the presence of hard subcutaneous masses below the scapulae, which may represent muscular atrophy or compensatory skeletal changes, nor the risk of Stevens-Johnson syndrome, were not sufficiently considered. Addressing these gaps through targeted diagnostic evaluations, urgent referrals, and a coordinated multidisciplinary approach is essential for providing comprehensive care and optimizing outcomes for this complex patient.

Note: 

What are the consequences when physicians refuse to stay updated with recent medical literature?

1. Increased risk of incorrect clinical diagnoses.
2. Failure to order necessary tests.

As a result, patients may receive inappropriate treatments or harmful medications.

More details: Is ME CFS connected to Spinal Muscular Atrophy (SMA)?
https://swaresearch.blogspot.com/2024/01/is-me-cfs-spinal-muscular-atrophy.html

© 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right.
Library of Congress Card Number: LCN 00-192742
ISBN: 0-9703195-0-9