Autoimmune Hemolytic Anemia Due to Spondyloenchondrodysplasia with Spastic Paraparesis and Intracranial Calcification due to Mutation in ACP5

Spondyloenchondrodysplasia (SPENCD) is a rare spondylometaphyseal skeletal dysplasia with characteristic lesions mimicking enchondromatosis and resulting in short stature. A large spectrum of immunologic abnormalities may be seen in SPENCD, including immune deficiencies and autoimmune disorders. SPENCD is caused by loss of tartrate-resistant acid phosphatase activity, due to homozygous mutations in ACP5, playing a role in nonnucleic-acid-related stimulation/regulation of the type I interferon pathway. In this article, we presented a 19-year-old boy with SPENCD, presenting with recurrent autoimmune hemolytic anemia episodes since he was 5 years old. He had short stature, platyspondyly, metaphyseal changes, intracranial calcification, spastic paraparesis, and mild intellectual disability. He also had recurrent pneumonia attacks. The clinical diagnosis of SPENCD was confirmed by sequencing of the ACP5 gene, and a homozygous c.155A > C (p.K52T) variation was found, which was reported before as pathogenic. In conclusion, in early onset chronic autoimmune cytopenias an immune dysregulation may often have a role in the etiology. Associating findings and immunologic functions should be carefully evaluated in such patients in the light of the literature. The present case shows the importance of multisystemic evaluation for the detection of SPENCD that has a monogenic etiology.

Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is the most frequent organic aciduria detected in newborn screening programs. It demonstrates a variable heterogeneous clinical phenotype, ranging from neonatal onset with severe neurological disorders to asymptomatic adult forms. Herein, we report the first 2 related cases of 3-MCC deficiency presenting with intracranial calcification in the literature. A girl and a boy aged 3 years, 9 months and 4 years were included in the study. The main clinical manifestations were acquired microcephaly, global developmental delay, intractable seizures, mild feeding difficulty, and intermittent dystonic contractions. On physical and neurological examinations, their weights, heights, and head circumferences were below the 3rd percentile, they had acquired microcephaly, truncal hypotonia, upper and lower limb spasticity, hyperreflexia, positive bilateral Babinski signs, and clonus. The detailed biochemical and metabolic tests were unremarkable, except blood 3-hydroxyisovalerylcarnitine (C5OH) was slightly increased in case 1. Cranial computed tomography demonstrated mild cerebral and cerebellar atrophy as well as bilateral periventricular and thalamic calcifications in both cases. We identified a homozygous mutation of c.1015G&#x3e;A (p.V339M) in the <i>MCCC2</i>gene, and the mutation was confirmed by Sanger sequencing. To the best of our knowledge, our cases are the first reported describing intracranial calcification in cases with 3-MCC deficiency. This report expands on the underlying causes of intracranial calcifications and suggests that 3-MCC deficiency may have intracranial calcifications on bilateral thalamus and periventricular white matters. If clinical findings show intracranial calcification, 3-MCC deficiency should also be kept in mind.

Intracranial calcification in venous congestion

Background Intracranial calcification is a common finding on brain imaging which can be non-specific. The calcification can be physiological or pathological. Likewise, subcortical calcification is a non-specific finding on non-contrast-enhanced computed tomography. This could be secondary to multiple underlying diseases such as Sturge-Weber syndrome, tuberous sclerosis, Fahr disease, post-chemoradiotherapy change, and metabolic disorders secondary to parathyroid or thyroid gland abnormalities. On the other hand, subcortical calcification secondary to arteriovenous malformation and dural venous fistula are uncommon findings. We report two cases with subcortical calcification secondary to these vascular malformations. We aim to highlight the importance of recognising subcortical calcification as one of the possible imaging appearances of dural venous fistula and arteriovenous malformation. Case presentation We report two cases, whom were a 45-year-old lady and a 20-year-old man, with subcortical calcification on non-contrast-enhanced computed tomography, which were later confirmed to be secondary to chronic venous congestion as the results of dural venous fistula and arteriovenous malformation, respectively. Both patients underwent magnetic resonance imaging of the brain and digital substraction angiography to confirm the diagnosis. Subsequently, both patients were offered embolisation with the 45-year-old lady opting for conservative management and the 20-year-old man waiting for the procedure, at the time of writing. Conclusion Venous congestion secondary to intracranial vascular malformation is an important differential diagnosis for extensive subcortical and basal ganglia calcification. Knowledge on the possibility of vascular malformation to present with subcortical calcification is crucial to avoid misdiagnosis and mismanagement of the patients.

Extensive Intracranial Calcification in A Case of Hypoparathyroidism Which Presented With Generalized Tonic-clonic Seizure: A Case Report

Hypoparathyroidism is an endocrine disorder that can be congenital or acquired. Generally, hypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia, and low or abnormal levels of Parathyroid Hormone (PTH). It can be asymptomatic or symptomatic. The symptoms include seizures, paresthesia, depression, psychosis, extrapyramidal manifestations, and increased intracranial pressure. In this case study, we reported a 40-yearold male patient who was admitted to the emergency department with generalized tonicclonic movements and urine incontinency. Laboratory investigations revealed hypocalcemia, hyperphosphatemia, and low parathyroid hormone levels and in paraclinical studies, including Electroencephalography (EEG) and brain CT-scan, despite normal EEG, extensive intracranial calcification involving the basal ganglia, thalamus, white matter of the cerebral hemispheres, and subcortical area of the frontal and parietal lobes were observed on CT-scan.

Bilateral Striopallidodentate Calcinosis in Female: A case report

Bilateral striopallidodentate calcinosis (BSPDC) is associated with many neurological and psychiatric abnormalities and most commonly present with extra pyramidal symptoms and can be idiopathic or associated with endocrinopathy, frequently with parathyroid disorders. Here we describe a case who presented with generalized seizure. During workup, the cause of seizure was found to be bilateral and symmetric, extensive, irregular, intraparenchymal calcifications involving the basal ganglia, thalamus and dentate nucleus, white matter in the frontal, parietal, and occipital lobes and dentate nuclei of cerebellum. On the basis of clinical features, investigations, and exclusion of other causes of intracranial calcification a clinical diagnosis of BSPDC was made. BSPDC should be considered in the differential diagnosis of endocrinopathy particularly parathyroid disorders, when associated with neurological and psychiatric abnormalities.