Massive Enlargement Research Articles

Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Disease): A Case Report and Literature Review

Introduction Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder of unknown etiology. Usually it presents with massive painless cervical lymph node enlargement. Histologically, it shows proliferation of distinctive histiocytic cells that demonstrate emperipolesis in the background of a mixed inflammatory infiltrates. Immunohistochemically, the cells are positive for markers such as CD68 and S100. Objective To report a case of a 12-year-old patient with multiple sites of cervical lymphadenitis, which was diagnosed as RDD histopathologically as well as immunohistologically. Resumed Report A 12-year-old girl presented with multiple painless sites of cervical lymphadenitis without any systemic and other ear, nose, and throat manifestations. The biopsy report of the lymph node showed dilatation of the sinuses, filled with histiocytes having foamy cytoplasm. Many of the histiocytes were engulfing mature lymphocytes. The sinus histiocytes were strongly positive for S-100 protein. Conclusion RDD must be considered in the differential diagnosis of massive or multiple lymphadenopathies.

Targeted inactivation of Cerberus like-2 leads to left ventricular cardiac hyperplasia and systolic dysfunction in the mouse.

Previous analysis of the Cerberus like 2 knockout (Cerl2−/−) mouse revealed a significant mortality during the first day after birth, mostly due to cardiac defects apparently associated with randomization of the left-right axis. We have however, identified Cerl2-associated cardiac defects, particularly a large increase in the left ventricular myocardial wall in neonates that cannot be explained by laterality abnormalities. Therefore, in order to access the endogenous role of Cerl2 in cardiogenesis, we analyzed the embryonic and neonatal hearts of Cerl2 null mutants that did not display a laterality phenotype. Neonatal mutants obtained from the compound mouse line Cer2−/−::Mlc1v-nLacZ24+, in which the pulmonary ventricle is genetically marked, revealed a massive enlargement of the ventricular myocardium in animals without laterality defects. Echocardiography analysis in Cerl2−/− neonates showed a left ventricular systolic dysfunction that is incompatible with a long lifespan. We uncovered that the increased ventricular muscle observed in Cerl2−/− mice is caused by a high cardiomyocyte mitotic index in the compact myocardium which is mainly associated with increased Ccnd1 expression levels in the left ventricle at embryonic day (E) 13. Interestingly, at this stage we found augmented left ventricular expression of Cerl2 levels when compared with the right ventricle, which may elucidate the regionalized contribution of Cerl2 to the left ventricular muscle formation. Importantly, we observed an increase of phosphorylated Smad2 (pSmad2) levels in embryonic (E13) and neonatal hearts indicating a prolonged TGFβs/Nodal-signaling activation. Concomitantly, we detected an increase of Baf60c levels, but only in Cerl2−/− embryonic hearts. These results indicate that independently of its well-known role in left-right axis establishment Cerl2 plays an important role during heart development in the mouse, mediating Baf60c levels by exerting an important control of the TGFβs/Nodal-signaling pathway.

Gill remodeling in three freshwater teleosts in response to high environmental ammonia

The present study aimed to determine whether gill macro- and microstructure show compensatory responses in three freshwater fish differing in their sensitivity to high environmental ammonia (HEA). The highly ammonia-sensitive salmonid Oncorhynchus mykiss (rainbow trout), the less ammonia-sensitive cyprinid Cyprinus carpio (common carp) and the highly ammonia-resistant cyprinid Carassius auratus (goldfish) were used as test species and were exposed for 0h (control), 3h, 12h, 24h, 48h, 84h and 180h to 1mM ammonia (as NH4HCO3; pH 7.9). In cyprinids, dramatic alterations were initiated quickly evident by thickening of filaments and lamellae, retraction of lamellae, enlargement of interlamellar cell mass (ILCM), and increase in the water–blood diffusion distance; while in trout, these modifications were absent or developed very slowly. These reorganizations may attempt to reduce the surface area presumably protecting against the water borne ammonia; and were more pronounced in goldfish marked by momentous enlargement of ILCM volume and the presence of rudimental and almost fused lamellae. Extensive mucus production in the gills of goldfish and carp and to a limited extent in trout may have been part of general stress response and/or may have played a protective role. While goldfish and carp showed shrinkage of apical crypts of mitochondrion rich cells (MRCs), probably aiding to regulate ion status, trout showed enlarged apical crypts of MRCs. All species displayed changes in the pattern of the microridges on the surface of pavement cells (PVCs). Overall, the present results connote that the goldfish with its minimal respiratory surface area and a large population of the MRCs with small apical crypts located on the edge of ILCM is better prepared for survival in ammonia polluted water compared to carp which maintain larger lamellae and especially the trout that did not show gill remodeling.

The role of heredity in pterygium development.

Several risk factors, which include heredity, ultra-violet (UV) light and chronic inflammation, contribute to pterygium development. However, there is no report integrating these factors in the pathogenesis of pterygium. The aim of this review is to describe the connection between heredity, UV, and inflammation in pterygium development. Existing reports indicate that sunlight exposure is the main factor in pterygium occurrence by inducing growth factor production or chronic inflammation or DNA damage. Heredity may be a factor. Our studies on factors in pterygium occurrence and recurrence identify that heredity is crucial for pterygium to develop, and that sunlight is only a trigger, and that chronic inflammation promotes pterygium enlargement. We propose that genetic factors may interfere with the control of fibrovascular proliferation while UV light or (sunlight) most likely only triggers pterygium development by inducing growth factors which promote vibrant fibrovascular proliferation in predisposed individuals. It also just triggers inflammation and collagenolysis, which may be promoters of the enlargement of the fibrovascular mass. Pterygium probably occurs in the presence of exuberant collagen production and profuse neovascularisation.

Case Report: Coexistence of Non-Keratinizing Squamous Cell Carcinoma and Follicular Lymphoma in Nasopharynx

We report a very rare case of coexistence of non-keratinizing nasopharyngeal carcinoma and follicular lymphoma in nasopharynx. A 52-year-old woman was admitted in our hospital because of painless enlarged bilateral cervical mass. Nasopharyngoscopy revealed a nasopharyngeal mass, and biopsy showed follicular lymphoma cells infiltrating non-keratinizing squamous carcinoma. The patient underwent combined treatment which targeted two tumors and was alive without any progression in one-year follow up.

Occult radiological effects of lipomatosis of the lumbosacral plexus

Lipomatosis of nerve (LN) is a condition of massive peripheral nerve enlargement frequently associated with hypertrophy within the distribution of the nerve, and most commonly affecting the distal limbs. We sought to understand if LN of the lumbosacral plexus would be associated with the trophic effects of LN on surrounding tissue within the pelvis, which may be clinically occult, but present on MRI. Fifty-one cases of LN, confirmed by pathology or pathognomonic appearance on MRI, were reviewed. Patients with LN of the sciatic nerve were investigated for radiological signs suggestive of overgrowth. Five patients had involvement of the sciatic nerve, 4 of whom had MR imaging of the pelvis. Three patients had LN involving the lumbosacral plexus, and one patient had isolated involvement of the sciatic nerve. All patients with involvement of the lumbosacral plexus demonstrated previously unrecognized evidence of nerve territory overgrowth in the pelvis, including: LN, profound adipose proliferation, muscle atrophy and fatty infiltration, and bone hypertrophy and ankylosis. The patient with LN involving the intrapelvic sciatic nerve, but not the lumbosacral plexus did not demonstrate any radiological evidence of pelvic overgrowth. LN is broader in anatomical reach than previously understood. Proximal plexal innervation may be involved, with a consequent effect on axial skeleton and intrapelvic structures.

Ossifying Epulis in a Thoroughbred Foal

A 4-month-old female thoroughbred foal was presented with large mass on mandibular gingiva. The enlarged mass was firm and yellowish pink in color, and occupied the whole mandibular arcade. The filly could not close her mouth with her lips. Radiographs showed radioopaque mass under the mandible. The mass was surgically excised from mandible. Histopathologically, gingival mass was characterized by hyperplastic gingival epithelium, well vascularized collagenous stroma and large area of bony tissues. Based on the gross and histopathologic findings, this case was diagnosed as ossifying epulis in the mandibular gingiva. This is the first report of ossifying epulis in a thoroughbred horse in Korea.

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

Giant juvenile fibroadenoma of the breast: a case report and brief literature review.

A girl (age, 12 years 11 months) consulted the pediatric endocrinology clinic because of a rapidly growing right breast mass over 13 cm observed during the preceding 3 months. A surgical excision was performed, and the mass was diagnosed as a giant juvenile fibroadenoma. Giant juvenile fibroadenomas are rare, usually occurring between 10 and 18 years of age, and characterized by massive and rapid enlargement of an encapsulated mass. The etiology is believed to be an end-organ hypersensitivity to normal levels of estrogen. We report a case of giant juvenile fibroadenoma and present a review of the diagnostic workup and management of a large breast tumor during adolescence.

A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease

Background/Aims: Autosomal-dominant polycystic kidney disease (ADPKD), a heterogeneous genetic disorder characterized by massive kidney enlargement and progressive chronic kidney disease, is due to abnormal proliferation of renal tubular epithelium. ADPKD is known to be caused by mutations in PKD1 and PKD2 genes. Methods: In the present study, the mutation analysis of PKD genes was performed in a new Chinese family with ADPKD using Long-Range (LR) PCR sequencing and targeted next-generation sequencing (targeted DNA-HiSeq). Results: A unique 28 bp deletion (c.12605_12632del28) in exon 46 of the PKD1 gene was identified in two affected family members by LR PCR method, but not in any unaffected relatives or unrelated controls. Higher accuracy and less missing detection presented in LR PCR method compared with targeted DNA-HiSeq. This mutation c.12605_12632del28 (p.Arg4202ProextX146) resulted in a delayed termination of amino acid code, and was highly speculated pathogenic in this ADPKD family. Moreover, this newly identified frame-shift change was compared to the PKD gene database, but no similar mutation was yet reported. Conclusion: A novel frame-shift mutation, c. 12605_12632del28, in the PKD1 gene was found in a Chinese ADPKD family. All evidence available suggested that it might be the mutation responsible for the disease in that family.

A Case of MALT Lymphoma with Left Inferior Rectus Muscle Invasion

Purpose: To report an unusual case of mucosa-associated lymphoid tissue (MALT) lymphoma localized to the left inferior rectus muscle. Case summary: A 52-year-old male presented with double vision 6 months in duration, which was exacerbated in the down-gaze. On initial examination, 6 and 30 prism diopters (PDs) of left hypertropia were observed in primary gaze and down gaze, respectively. Prominently limited infraduction was also observed in his left eye. Computed tomography (CT) revealed contrast enhancing mass on the left inferior rectus muscle. He was diagnosed with suspicious orbital pseudotumor and treated with systemic steroid for 2 months. Double vision and limited infraduction was improved and the mass size was decreased on CT. After 21 months, the patient revisited the clinic with the same symptoms. In the down-gaze, 35 PDs of hypertropia were observed in his left eye along with limited infraduction. CT revealed an enlarged mass and left superior rectus muscle recession along with an incisional biopsy of the left inferior rectus muscle were performed. Infiltration by small lymphoid cells was detected with hematoxylin-eosin and immunohistochemical stainings. Subsequently, the patient was diagnosed with MALT lymphoma localized to the left inferior rectus muscle. Conclusions: This is the first description of MALT lymphoma with inferior rectus muscle invasion in a Korean patient. In a patient with strabismus and limited duction, the possibility of extraocular muscle tumor including lymphoma should be considered. Homogenously contrast-enhanced mass on orbit CT can help in to make a diagnosing extraocular muscle lymphoma. J Korean Ophthalmol Soc 2014;55(6):947-951

2013 Late-Breaking Basic Science Abstracts

### 21998 #### Enhanced Myocardial Repair with CardioChimeras Pearl J Quijada, Jonathan D Cubillo, Claudio Staub, Mark A Sussman; San Diego State Univ, San Diego, CA Dual stem cell transplantation of c-kit positive cardiac progenitor cells (CPCs) and mesenchymal stem cells (MSCs) after infarction support modest improvements in cardiac function, however there are currently no reports substantiating a single stem cell type supporting both direct and indirect mechanisms of myocardial repair. Therefore we created a CardioChimera, a stem/progenitor cell formed by fusion between CPCs and MSCs, resulting in a unique progeny superior to either individual precursor. CardioChimeras were purified after cell fusion with Hemagglutinating virus of Japan and expanded clonally based on dual expression of fluorescent proteins mCherry and eGFP from CPCs and MSCs respectively. CardioChimeras are mono-nucleated, have comparable growth kinetics to parental CPCs and MSCs and display increased cellular size unrelated to cell cycle arrest and/or senescence. CardioChimeras have increased expression of cardiomyogenic lineage markers cardiac troponin T (2.5-fold), smooth muscle 22 (9.3-fold), and CD31 (10.7-fold) concomitantly associated with decreased c-kit protein expression (50%) relative to parent CPCs. Lineage commitment of CardioChimeras is bolstered by dexamethasone treatment measured by mRNA levels of cardiogenic genes and increases in active mitochondria (2.2-fold) after labeling with MitoTracker. Induction of apoptosis is blunted in cardiomyocytes co-cultured with CardioChimeras compared to co-culturing with CPCs and MSCs alone, or combination of non-fused parent cells. CardioChimeras enhance cardiomyocyte growth similar to parent MSCs owing to an increased propensity to secrete pro-growth factors. Collectively, CardioChimeras represent an adaptable cell therapy combining the beneficial properties of CPCs to undergo cardiac specific commitment as well as MSCs that foster an improved microenvironment with protective paracrine secretion. Clinically, CardioChimeras merge the application of distinct cell types into a single entity for increased engraftment, mitigation of inflammation and blunting the progression of heart failure by promoting myocardial regeneration. …

Metachronous Nodal and Nasal Rosai-Dorfman Disease presenting with Chronic Renal Failure

ABSTRACT Rosai-Dorfman disease (RDD) is an uncommon non-neoplastic lymphoproliferative disorder. It usually manifests as bilateral, painless, massive cervical lymph node enlargement in children and young adults, hence the name sinus histiocytosis with massive lymphadenopathy. Extranodal involvement is observed in 25 to 40% of cases. Involvement of nasal cavity is rare and those presenting with renal failure are exceptional. We report a rare case of 16-year-old boy who was diagnosed as a case of RDD of cervical lymph node before 6 years, now presenting with nodular lesions in the nasal cavity and features of renal failure. The nasal lesion was confirmed to be RDD histologically. How to cite this article Bhat SP, Prasad HLK, Bhandary BSK, Baikunje S, Bhat V. Metachronous Nodal and Nasal Rosai Dorfman Disease presenting with Chronic Renal Failure. Clin Rhinol An Int J 2013;6(3):139-143.

Acquired Fontan Physiology Secondary to Acute Mechanical Tricuspid Valve Failure in a Patient With Massive Right Heart Enlargement and Ebstein’s Anomaly

A 25-year-old man with Ebstein’s anomaly and a secundum atrial septal defect had a mechanical tricuspid valve replacement (St. Jude 31-mm valve) and atrial septal defect closure when he was 15 years old. He was under long-term specialist follow-up and had recently been admitted with symptoms and signs of right heart failure secondary to new onset atrial flutter. He was direct-current cardioverted and commenced on ramipril and metoprolol. He then went to have an electrophysiological study and successful atrial flutter ablation. At review 6 months later he reported good exercise tolerance and was now able to play 18 holes of golf, whereas previously he could only manage 9 holes. However, he commented that since the electrophysiological procedure he had been unable to hear his prosthetic valve clicks. On clinical examination he was not cyanosed, the jugular venous pressure was elevated at 4 cm without prominent V waves, there was a soft first heart sound, no audible mechanical valve clicks, and a pansystolic murmur. There were no signs of heart failure or peripheral edema. An electrocardiogram demonstrated sinus rhythm, right axis deviation, first-degree heart block, and right bundle-branch block with QRS duration of 200 ms. Echocardiography and fluoroscopy (Figure 1) showed that the leaflets of the …

Muscular metastasis heralding medullary carcinoma of the thyroid

Medullary thyroid carcinoma (MTC) commonly metastasizes locally to the cervical lymph nodes and distantly to the liver, lungs and bones. Metastatic involvement of the muscles is extremely rare. We reported an unusual case of undiagnosed MTC presenting with symptoms related to metastatic lesions of the brachoradialis and the gluteus medius muscles. A 53-year-old man consulted for a painful mass of the right forearm and atrophy of the quadriceps. Ultrasonography revealed a heterogeneous collection in the forearm. Computed tomographic scan showed a mass in the right lung, an enlargement of mediastinal lymph nodes and solid masses in the right gluteus medius and the left iliopoas muscle extending to the left iliac bone. Pulmonary biopsies displayed findings consistent with metastatic MTC. Fine needle aspiration cytology from the right arm swelling revealed a lesion with the same calcitonin immunostaining patterns as the lung metastasis. The diagnosis of multiple metastases (lung, muscle and bone) of MTC is established. The patient has received local radiation therapy and was planned for chemotherapy. Muscular metastases from MTC are rare and although their prognosis is poor, local treatment may be worthwhile.

Surgical management of infected thoracic aneurysms.

Infected thoracic aortic aneurysm (ITAA) is a relatively rare disease. The diagnosis of ITAA is generally made comprehensively based on symptoms, laboratory data and CT findings. Several series of blood cultures are mandatory to first detect the infecting organism. ITAA is usually suspected as a result of the CT findings. A short-interval CT re-examination is essential to confirm the correct diagnosis. A CT scan commonly demonstrates a rapid enlargement of the aneurismal lumen and soft tissue mass surrounding the aorta. One of the characteristics of ITAA is the presence of several nodular or saccular aneurysms localized in different aortic portions. Patients with ITAA are associated with high incidences of aneurismal rupture due to the aneurysm's abrupt growth. Therefore, ITAAs are associated with both high morbidities and mortalities. The major concerns regarding surgical treatment for ITAA are the control of infection, the resection of whole infected tissue, grafting via an aseptic route and the prevention of recrudescent infection. Therefore, effectual antibiotic therapy is mandatory as the first choice of therapy. Ideally surgical intervention is indicated in patients with a controlled infection. It is essential to excise the whole infected aneurysm and to reconstruct in-situ grafting via an aseptic route. However, urgent surgery is often required in patients with an uncontrolled infection because they have an impending aneurismal rupture. In such cases, an extra-anatomical bypass without cardiopulmonary bypass is applicable. Surgical strategies should therefore be determined on a case-by-case basis because these patients present various clinical courses.

A novel JNK2/SREBP-1c pathway involved in insulin-induced fatty acid synthesis in human adipocytes

Insulin plays important roles in apoptosis and lipid droplet (LD) formation, and it is one of the determinants involved in increasing fat mass. However, the mechanisms underlying insulin-induced enlargement of fat mass remain unclear. Our previous study suggested that insulin-induced increases in LDs are related to c-Jun N-terminal kinase (JNK)2-mediated upregulation of cell death-inducing DNA fragmentation factor-α-like effector (CIDE)C in human adipocytes. However, other genes involved in insulin/JNK2-induced LD formation are unknown. Here, we explored insulin/JNK2-regulated genes to clarify the mechanism of enlargement of LDs. Microarray analysis revealed that an insulin/JNK2 pathway mostly regulates expression of genes involved in lipid metabolism, including sterol regulatory element binding protein (SREBP)-1, a key transcription factor of lipogenesis. The JNK inhibitor SP600125 blocked insulin-induced upregulation of SREBP-1c expression. Small interfering RNA-mediated depletion of JNK2 suppressed insulin-induced nuclear accumulation of the active form of SREBP-1 protein and upregulation of SREBP-1c. Furthermore, depletion of JNK2 attenuated insulin-induced upregulation of SREBP-1c target lipogenic enzymes, leading to reduced de novo fatty acid synthesis. In addition, JNK2 coimmunoprecipitated with SREBP-1, reinforcing the correlation between JNK2 and SREBP-1. These results suggest that SREBP-1c is a novel insulin/JNK2-regulated gene and that the JNK2/SREBP-1c pathway mediates insulin-induced fatty acid synthesis, which may lead to enlargement of LDs in human adipocytes.

Innervated ectopic salivary gland associated with Rathke’s cleft cyst clinically mimicking pituitary adenoma

Herein, we report an exceptional case of a young female patient with progressive enlargement of a sellar mass, clinically suggestive of pituitary adenoma. Histopathology, however, demonstrated Rathke's cleft cyst associated with salivary gland remnants. In contrast to the majority of prior reports, the ectopic salivary glands were found in close proximity to the anterior pituitary lobe and showed active production of mucous secret, which caused progressive growth and symptoms in this patient. We further demonstrate nerve fibers surrounding the ectopic salivary glands, thereby suggesting parasympathetic innervation as a plausible mechanism triggering seromucous secretion. Neurosurgeons and neuropathologists need to be aware of this rare clinical condition expanding the spectrum of differential diagnoses of sellar masses.

Su1581 Role of Endoscopic Ultrasound (EUS) Evaluating Patients With Adrenal Gland Enlargement or Mass

Su1581 Role of Endoscopic Ultrasound (EUS) Evaluating Patients With Adrenal Gland Enlargement or Mass Melissa Martinez Mateo*, Julia K. Leblanc, Mohammad a. AL-Haddad, Stuart Sherman, John Dewitt Gastroenterology, Indiana University School of Medicine, indianapolis, IN Introduction: Studies evaluating the role of EUS-FNA(fine needle aspiration) in adrenal lesions are limited to patients with lung cancer or other malignancy and, generally lack long-term follow-up of benign lesions, surgical correlation, and description of its clinical impact. This study aims to report the utility and clinical impact of EUS-FNA of adrenal masses at our institution over a 15 year period. Methods: In a retrospective single-center case series, we identified consecutive patients from 10/97 to 12/11 who had EUS-FNA of either adrenal gland. The following were retrieved from medical records: EUS indications, findings, pathology, complications and follow-up abdominal imaging (CT or MRI) or surgery. Benign EUS-FNA adrenal cytology (anything without definitive malignancy) was considered correct if follow-up imaging at 4months showed the lesion increased 1cm of the original size. Results: 94 patients (52% male, median age 66 years, range: 32-86), had EUS-FNA (median 3 passes; range 1-7) of the left (n 90) and/or right (n 5) adrenal without complications. The median maximal adrenal diameter was 2.4 cm (range 0.7-8). Procedure indications: cancer staging (n 26) or, suspected recurrence (n 5), pancreatic (n 20), mediastinal (n 10), adrenal (n 7), lung (n 7) mass or other (n 19). Previous CT showed adrenal gland enlargement or mass in 59%. Twenty-five (26%) biopsies were malignant: metastatic lung (n 10), esophageal (n 5), colon (n 2), pancreatic (n 2), or other cancers (n 6). Nine (10%) biopsies were non-diagnostic and follow up in these CT showed a stable lesion in 5 but, was unavailable in 4. Sixty (64%) were benign: aldosteronoma (n 1), pheochromocytoma (n 1), paraganglioma (n 1) and adenomas/benign adrenal tissue (n 57). Available follow-up in 36/60 (60%) benign lesions showed: stable size by imaging in 27, confirmation as benign in 5 by repeat EUS-FNA (n 1) or adrenalectomy (n 4), or cancer in 4 by later CT-guided adrenal biopsy (metastatic NSCLC in one, neuroendocrine cancer in one), enlargement of previous and new contralateral adrenal mass on repeat CT (NSCLC in one), or adrenalectomy (adrenocortical carcinoma in one). Follow-up was unavailable in 24/60 (40%) benign biopsies. EUS-FNA of either adrenal made initial the diagnosis of stage IV cancer in 17, cancer recurrence in 7, and ruled out metastasis in 10 patients with underlying malignancy and available follow-up. For patients with malignant or benign cytology and available follow-up (n 61), the sensitivity, specificity, PPV and NPV of adrenal EUS-FNA for malignancy was 86% (CI 68-95%), 97% (CI 83-100%), 96% (CI 79-100%) and 89% (CI 74-96%) respectively. Conclusion: Adrenal gland EUS-FNA is a safe, minimally invasive and sensitive technique with significant impact in the management of patients with adrenal gland mass or enlargement.

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease

Dominant polycystic kidney disease is common and usually presents clinically in adulthood. Recessive polycystic kidney disease is much less common and frequently presents antenatally or in the neonatal period with severe renal involvement. These are usually thought of as clinically distinct entities but diagnostic confusion is not infrequent. We describe an infant with antenatally diagnosed massive renal enlargement and oligohydramnios with no resolvable cysts on ultrasound scanning. He underwent bilateral nephrectomy because of respiratory compromise and poor renal function but died subsequently of overwhelming sepsis. Genetic analysis revealed that he had bilineal inheritance of abnormalities of PKD1 and no demonstrable abnormalities of PKD2 or PKHD1. Biallelic inheritance of abnormalities of PKD1 may causextremely severe disease resembling autosomal recessive polycystic kidney disease (ARPKD) which can result indiagnostic confusion. Accurate diagnosis is essential forgenetic counseling [corrected].