Congenital cystic adenomatoid malformation (CCAM) is a rare developmental abnormality of lung occuring in 1-4/100000 live births. The mainstay of treatment is usually surgical excision as it can lead to recurrent pneumonias, abscess or malignancy. We here report a rare case of CCAM who presented at one year of age with right sided lung cysts and had favorable outcome as it resolved spontaneously.
Acute disseminated encephalomyelitis (ADEM) is an initial inflammatory demyelinating event with multifocal neurological deficits, typically accompanied by encephalopathy 1 . Generally, the diagnosis of ADEM is made by clinical history, neurological manifestations and magnetic resonance images (MRI) of the central nervous system. ADEM has not been recognized as a common neurological complication of malaria. As per the Pubmed search only 4 cases of ADEM as a neurological complication of malaria has been reported.We report a 8 year old male child with cerebral malaria and ADEM which is a rare neurological complication and diagnosis was made on the basis of MRI Brain.
Mitochondrial trifunctional protein deficiency (MTP deficiency or MTPD) is a rare autosomal recessive disorder of oxidation of long-chain fatty acids. It is characterized by severe neonatal manifestations such as cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy, neuropathy, liver disease, and death. It can also present with mild symptoms such as peripheral polyneuropathy, episodic rhabdomyolysis, and pigmentary retinopathy. Peripheral neuropathy is a known and long-term irreversible complication of MTPD. We report a rare case of a 5-year-old male child with slowly progressive limb weakness; genetic analysis was suggestive of MTPD with novel HADHA gene mutation. The present study comprehensively analyzed the cases, including exome sequencing, to the best of our knowledge, describing the first observation of homozygous novel mutation in the HADHA gene underlying this disorder in India.
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