Differential Diagnosis for Unsteady Gait in an 11-Year-Old Girl
Single Most Likely Diagnosis
- Friedreich's Ataxia: This is a genetic disorder that affects the nervous system and is characterized by progressive damage to the spinal cord, peripheral nerves, and the cerebellum. The patient's symptoms of unsteady gait, wide-based gait, decreased vibratory and position sense, and absent ankle jerks are consistent with this diagnosis. The presence of scoliosis also supports this diagnosis, as it is a common feature of Friedreich's Ataxia.
Other Likely Diagnoses
- Vitamin B12 Deficiency: A deficiency in vitamin B12 can cause demyelination of the spinal cord, leading to symptoms such as unsteady gait, decreased vibratory and position sense, and absent reflexes. Although the patient's diet is not mentioned, a deficiency in vitamin B12 could be a possible cause of her symptoms.
- Spinocerebellar Ataxia: This is a group of genetic disorders that affect the cerebellum and spinal cord, causing progressive ataxia. The patient's symptoms and family history of sudden cardiac death (which could be related to a cardiac conduction abnormality associated with some forms of spinocerebellar ataxia) make this a possible diagnosis.
Do Not Miss Diagnoses
- Spinal Cord Tumor or Syrinx: A tumor or syrinx in the spinal cord can cause progressive weakness, sensory loss, and ataxia. Although less likely, this diagnosis is critical to rule out due to its potential for serious consequences if left untreated.
- Subacute Combined Degeneration: This is a condition caused by vitamin B12 deficiency that affects the spinal cord, leading to symptoms such as weakness, sensory loss, and ataxia. It is essential to consider this diagnosis due to its potential for irreversible damage if left untreated.
- Infectious or Inflammatory Causes: Infections such as Lyme disease or inflammatory conditions like multiple sclerosis can cause ataxia and sensory loss. Although less likely, these diagnoses are crucial to consider due to their potential for serious consequences if left untreated.
Rare Diagnoses
- Ataxia-Telangiectasia: This is a rare genetic disorder that affects the nervous system, immune system, and other bodily systems. It is characterized by progressive ataxia, telangiectasias, and immune deficiencies.
- Abetalipoproteinemia: This is a rare genetic disorder that affects the absorption of fat and fat-soluble vitamins, leading to symptoms such as ataxia, sensory loss, and retinitis pigmentosa.
- Refsum Disease: This is a rare genetic disorder that affects the breakdown of a certain type of fatty acid, leading to symptoms such as ataxia, sensory loss, and retinitis pigmentosa.