Differential Diagnosis for Newborn with High Creatine Kinase and LDH
- Single most likely diagnosis:
- Muscular Dystrophy: High creatine kinase (CK) and lactate dehydrogenase (LDH) levels in a newborn can indicate muscular dystrophy, particularly Duchenne muscular dystrophy or other congenital muscular dystrophies. Elevated CK levels are a hallmark of muscle damage, and LDH is a marker of tissue damage.
- Other Likely diagnoses:
- Birth Asphyxia: Birth asphyxia can cause significant muscle and tissue damage, leading to elevated CK and LDH levels. This condition can result from various factors, including umbilical cord prolapse, placental abruption, or fetal distress.
- Infectious Myositis: Bacterial or viral infections can cause myositis, leading to muscle damage and elevated CK and LDH levels. Group B streptococcal infection is a common cause of neonatal sepsis and can lead to myositis.
- Metabolic Disorders: Certain metabolic disorders, such as Pompe disease or McArdle disease, can cause elevated CK and LDH levels due to muscle damage or dysfunction.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.):
- Spinal Muscular Atrophy: Although less common, spinal muscular atrophy (SMA) is a devastating condition that can present with elevated CK levels. SMA is a genetic disorder that affects the nerve cells responsible for controlling voluntary muscle movement.
- Mitochondrial Myopathies: Mitochondrial myopathies are a group of disorders that affect the mitochondria, leading to muscle damage and elevated CK and LDH levels. These conditions can be life-threatening and require prompt diagnosis and treatment.
- Rare diagnoses:
- Walker-Warburg Syndrome: This is a rare congenital muscular dystrophy that can present with elevated CK and LDH levels, as well as other systemic abnormalities, such as eye and brain malformations.
- Congenital Myasthenic Syndrome: This is a rare genetic disorder that affects the neuromuscular junction, leading to muscle weakness and elevated CK levels.