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Tentorial
laceration may produce a tear in the vein of Galen, straight sinus, or
transverse sinus. Occipital osteodiastasis consists of a separation between
the squama occipitalis and the lateral portion of the occipital bone.
Occipital osteodiastasis may result in rupture of the occipital sinus.
Infratentorial subdural hematoma may present clinically 2 to 4 days after
birth in a previously normal neonate. Signs of brainstem dysfunction,
increased intracranial pressure, and nuchal rigidity may be present. The
most frequent signs of brainstem dysfunction are skew deviation unchanged
by caloric testing, asymmetric pupils, and bradycardia.
ERRORS
OF METABOLISM
An
inborn error of metabolism should be suspected in every comatose neonate.
The level of suspicion should be raised if the neonate has: (1) a peculiar
odor; (2) a combination of truncal hypotonia and limb hypertonia; (3)
brainstem dysfunction; (4) signs of increased intracranial pressure; (5)
stimulus-sensitive myoclonus; (6) abnormal respirations in the absence
of cardiac or respiratory disease; or (7) a family history of unexplained
death, metabolic disease, or parental consanguinity. A symptom-free interval
lasting for a few days after birth may occur with some inborn errors of
metabolism.
The blood,
urine, and cerebrospinal fluid investigations that should be performed
in a patient suspected of having an inborn error of metabolism include:
(1) venous blood for CBC and platelets, liver function tests, glucose,
lactate, pyruvate, ammonia, total and acylcarnitine, uric acid, biotinidase,
and amino acids; (2) arterial pH; (3) urine for ketones, sulfite, and
organic acids; and (4) cerebrospinal fluid for amino acids (especially
glycine) and lactate.
Coma due to an inborn error
of metabolism is produced by enzymatic defects in the metabolism of proteins,
fats, carbohydrates, and pyruvate, or citric cycle abnormalities, mitochondrial
respiratory chain, and urea cycle. These disorders can not be clinically
distinguished from each other. Their diagnoses depend on specific laboratory
findings.
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