Brain CT scan is the preferred method of localizing and assessing the extent of cerebral calcifications.Elevated levels of copper, iron, magnesium and zinc but not calcium have been reported in the CSF but the significance of this finding — if any — is not known.The diagnosis requires the following criteria be met:
the presence of bilateral calcification of the basal ganglia
the presence of progressive neurologic dysfunction
the absence of an alternative metabolic, infectious, toxic or traumatic cause
a family history consistent with autosomal dominant inheritanceThe calcification is usually identified on CT scan but may be visible on plain films of the skull. Differential diagnosis
Basal ganglia calcification may occur as a consequence of several other known genetic conditions and these have to be excluded before a diagnosis can be made. Management
There is currently no cure for PFBC nor a standard course of treatment. The available treatment is directed symptomatic control. If parkinsonian features develop, there is generally poor response to levodopa therapy. Case reports have suggested that haloperidol or lithium carbonate may help with psychotic symptoms. One case report described an improvement with the use of a bisphosphonate. Prognosis
The prognosis for any individual with PFBC is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55.Progressive neurological deterioration generally results in disability and death.
Pneumopericardium is a medical condition where air enters the pericardial cavity. This condition has been recognized in preterm neonates, in which it is associated with severe lung pathology, after vigorous resuscitation, or in the presence of assisted ventilation. This is a serious complication, which if untreated may lead to cardiac tamponade and death. Pneumomediastinum, which is the presence of air in the mediastinum, may mimic and also coexist with pneumopericardium. It can be congenital, or introduced by a wound. Presentation
The symptomatic patient may present with dyspnea, cyanosis, chest pain, pulsus paradoxus, bradycardia or tachycardia. Pathophysiology
The mechanism responsible for pneumopericardium is the ‘Macklin effect’ – There is initially an increased pressure gradient between the alveoli and the interstitial space. Increased pressure leads to alveolar rupture, resulting in air getting through to the pericapillary interstitial pulmonary space. This space is continuous with the peribronchial and pulmonary perivascular sheaths. From here, the air tracks to the hilum of the lung and then to the mediastinum. In case of a pericardial tear, this air enters the pericardial cavity and pneumopericardium develops. The condition may remain asymptomatic or may progress to life-threatening conditions like tension pneumopericardium or cardiac tamponade. Diagnosis
On physical examination, the patient may have the classic “Beck’s triad” – hypotension, raised JVP and distant heart sounds, when complicated by cardiac tamponade. Extension of the mediastinal air to the subcutaneous tissues via the fascial planes may lead to subcutaneous emphysema.