Ellis van Creveld syndrome: An unusual presentation at birth

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive disease. The prevalence of the disease in the world is 1/6000–20,000 newborns. In the Indian population, it is difficult to estimate the exact prevalence of the disease but, it is mostly seen in the Amish population. The cardinal features are short stature, dysplastic nails and teeth, polydactyly, narrow chest, and heart defects. The crucial differentials are Jeune dystrophy, Weyers syndrome, and McKusick-Kaufman syndrome. Here, we report a neonate, born of a non-consanguineous marriage with a syndromic appearance consisting of a bell-shaped chest, polydactyly, natal teeth, and single atrium. Prognosis is related to respiratory and heart defects in the early neonatal period.

A Rare Case of Chronic Kidney Disease with Photophobia

Cystinosis is a rare autosomal recessive disease characterized by cystine accumulation in the lysosome leading to various organdysfunction. Kidneys are severely affected, of which nephropathic infantile form is the most common.

A Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases

A case of a patient with an early and severe visual impairment is described. Due to the occurrence of skin papules a suspect of pseudoxanthoma elasticum (PXE) was posed. PXE is a rare autosomal recessive disease clinically characterized by skin, cardiovascular and ocular manifestations, these last being those that most severely affect patients’ quality of life. A whole exome sequencing approach focusing on 340 genes related to the calcification process and/or to inherited retinal diseases (IRDs) was performed. Rare monoallelic sequence variants in ABCA4, ABCC6, IMPG1, POC1B and RAX2 were found. The presence of calcified elastic fibers was assessed by ultrastructural analysis on a skin biopsy. Diagnosis of PXE was based on clinical, biomolecular and morphological results, although the additional involvement of several IRD genes is important to explain the unexpectedly severe ophthalmological phenotype of the patient also in prognostic and therapeutic perspectives. Data indicate that genetic screening using a wide-spectrum analysis approach is essential to assist ophthalmologists in improving patient counseling.

Severe Aplastic Anemia in a Patient with Erythropoietic Protoporphyria Successfully Treated by Avatrombopag

Erythropoietic protoporphyria (EPP) is a rare autosomal recessive disease presented with protoporphyrin deposition, photosensitivity and even liver damage. Avatrombopag, a thrombopoietin receptor agonists, has been applied for immune thrombocytopenia and periprocedural thrombocytopenia in patients with chronic liver disease. Here, we reported the first case of a 19-year-old man with acquired aplastic anemia associated with congenital EPP. EPP has led to a severe cirrhosis and liver dysfunction in this patient, which limited hematopoietic stem cell transplantation and immunosuppressive therapy to cure aplastic anemia. We administered Avatrombopag as the first-line therapy. After 8 months, we observed that avatrombopag induced complete response of aplastic anemia safely.

From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report

Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disease clinically characterised by early cutaneous alterations, and by late clinically relevant ocular, and cardiovascular manifestations. ABCC6 genetic tests are used to confirm clinical PXE diagnosis, but this strategy may be rather challenging when only one ABCC6 pathogenic variant is found. A next-generation sequencing approach focusing on 362 genes related to the calcification process and/or to inherited retinal diseases was performed on a patient with clinical PXE diagnosis (skin papules and laxity, angioid streaks, and atrophy) who was carrier of only one ABCC6 rare sequence variant. Beside ABCC6, several rare sequence variants were detected which can contribute either to the occurrence of calcification (GGCX and SERPINF1 genes) and/or to ophthalmological manifestations (ABCA4, AGBL5, CLUAP1, and KCNV2 genes). This wide-spectrum analysis approach facilitates the identification of rare variants possibly involved in PXE, thus avoiding invasive skin biopsy as well as expensive and time-consuming diagnostic odyssey and allows to broaden and to deepen the knowledge on this complex rare disease and to improve patients' counselling, also with a future perspective of personalised medicine.

Ataxia-telangiectasia and combined hepatocellular-cholangiocarcinoma: A case report

Ataxia telangiectasia (A-T) is a rare autosomal recessive disease characterized by ataxia, cutaneous and ocular telangiectasia, impaired immunity with susceptibility to sino-pulmonary infections, radiation sensitivity and cancers particularly of haemato-lymphoid origin. Liver function tests abnormalities and elevated alfa feto-protein have been reported in A-T however there is no reported case of combined hepatocellular-cholangiocarcinoma (cHCC-CC) in literature. These tumours should be treated in similar fashion as in general population however reduction of chemotherapy dose might be helpful in decreasing chemo-toxicity.

Aromatase deficiency in an Ontario Old Order Mennonite family

Objectives Aromatase deficiency is a rare autosomal recessive disease that results in the absence of aromatase. In females it presents with ambiguous genitalia and lack of secondary sexual characteristics during puberty. Aromatase deficiency is not attributed to any specific population, but it is more commonly seen in consanguineous parents. Herein, we report the first Old Order Mennonite family with that diagnosis. Case presentation Our proband is an Old Order Mennonite female born with ambiguous genitalia who was identified to carry novel homozygous variant in the CYP19A1 gene c.1304G>A (p. Arg435His). Her older brother was later confirmed with the same genetic diagnosis. Conclusions Recognizing the cultural sensitivity, unrecognized affected cases, and late presentation of males affected with aromatase deficiency, this condition may be more prevalent than believed in that population.

Pulmonary Alveolar Microlithiasis and Pregnancy - A Case Report

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease with a high penetrance characterized by widespread intra-alveolar accumulation of innumerable minute calculi called microliths. Pregnancy with PAM is even rarer. Here we are presenting the second case in India of 28yrs G2P1L1 37 weeks 1 day, known case of PAM with gestational hypothyroidism. She had difficulty in breathing which has increased from NYHA- grade II to NYHA- grade III from the fifth month of gestation. She had parrot beak (grade 3) clubbing. She was having intrauterine growth restriction with a growth discrepancy of four weeks. The patient was taken for cesarean section in view of a breech with premature rupture of the membrane with intrauterine growth restriction. Since lung function is compromised, oxygen supply to the baby is expected to be compromised, which can lead to intrauterine growth restriction, which is evident in this patient in both of her pregnancies.

Anesthetic Management of a Juvenile Hyaline Fibromatosis Patient With Trismus and Cervical Movement Limitation

Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease characterized by the presence of tissue nodules, joint contractures, and gingival hyperplasia. With a 1-year-9-month-old female patient scheduled for a gingivectomy and excision of a lower lip mass under general anesthesia, it was anticipated that airway management would be difficult because of trismus and limited cervical movement. Intubation with video-laryngoscopic assistance could not be achieved because gingival hyperplasia and trismus prevented blade insertion and manipulation. Therefore, 2 endotracheal tubes were used: 1 used as a nasopharyngeal airway for assisted ventilation, and 1 used for intubation along with a flexible fiberoptic scope. This case demonstrated a useful method for managing ventilation and intubation in patients with JHF, particularly when the use of oral airway devices is difficult.

Oral Management of Hereditary Sensory and Autonomic Neuropathy Type V: A Rare Case Report

Hereditary sensory and autonomic neuropathies (HSAN) are rare diseases. Five different types are described. Hereditary sensory and autonomic neuropathy type V, also known as congenital insensitivity to pain, is a rare autosomal recessive disease seen in early childhood. Self-mutilation is an invariable feature of this disorder involving the teeth, tongue, lips, and fingers. This report described the case of a 2-year-old baby boy who had self-mutilating injuries to her tongue and hands, caused by biting. Protective splints were given to the patient to prevent further self-mutilation.